VCV000069961.2 - ClinVar - NCBI (original) (raw)
- Classification Summary
- Variant Details
- Genes
- Germline
- Conditions
- Submissions
- Functional Evidence
- Citations
- Text mined Citations
NM_001349798.2(FBXW7):c.1513C>T (p.Arg505Cys)
Germline
Classification Help
(13) Help
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Likely pathogenic
13
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
Identifiers
NM_001349798.2(FBXW7):c.1513C>T (p.Arg505Cys)
Variation ID: 69961 Accession: VCV000069961.2
Type and length
single nucleotide variant, 1 bp
Location
Cytogenetic:4q31.3 4: 152326137 (GRCh38) [ NCBI UCSC ] 4: 153247289 (GRCh37) [ NCBI UCSC ] 4: 153466739 (NCBI36) [ NCBI UCSC ]
Timeline in ClinVar
| First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification. | Last submission Help The date of the most recent submission for each type of classification for this variant. | Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification. |
|---|---|---|
| Germline | Mar 8, 2017 | Oct 21, 2023 |
HGVS
... more HGVS ... less HGVS
Protein change
R505C, R387C, R425C
Other names
-
Canonical SPDI
NC_000004.12:152326136:G:A
Functional
consequence Help
The effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
Global minor allele
frequency (GMAF) Help
The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
Allele frequency Help
The frequency of the allele represented by this VCV record.
-
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases. | Related variants | ||
|---|---|---|---|---|---|---|
| HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. | TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. | Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. | All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. | |||
| FBXW7 | - | - | GRCh38GRCh37 | 134 | 169 |
Conditions - Germline
| Condition Help The condition for this variant-condition (RCV) record in ClinVar. | Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) | Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. | Last evaluated Help The most recent date that a submitter evaluated this variant for the condition. | Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Malignant neoplasm of body of uterus | Likely pathogenic (1) | no assertion criteria provided | May 31, 2016 | RCV000422076.2 |
| Malignant melanoma of skin | Likely pathogenic (1) | no assertion criteria provided | May 31, 2016 | RCV000443061.2 |
| B-cell chronic lymphocytic leukemia | Likely pathogenic (1) | no assertion criteria provided | May 31, 2016 | RCV000444088.2 |
| Transitional cell carcinoma of the bladder | Likely pathogenic (1) | no assertion criteria provided | May 31, 2016 | RCV000427176.2 |
| Gastric adenocarcinoma | Likely pathogenic (1) | no assertion criteria provided | May 31, 2016 | RCV000433395.2 |
| Carcinoma of esophagus | Likely pathogenic (1) | no assertion criteria provided | May 31, 2016 | RCV000437170.2 |
| Neoplasm of the large intestine | Likely pathogenic (1) | no assertion criteria provided | May 31, 2016 | RCV000438775.2 |
| Squamous cell carcinoma of the head and neck | Likely pathogenic (1) | no assertion criteria provided | May 31, 2016 | RCV000432318.2 |
| Neoplasm of uterine cervix | Likely pathogenic (1) | no assertion criteria provided | May 31, 2016 | RCV000444218.2 |
| Ovarian serous cystadenocarcinoma | Likely pathogenic (1) | no assertion criteria provided | May 31, 2016 | RCV000422275.2 |
| Squamous cell lung carcinoma | Likely pathogenic (1) | no assertion criteria provided | May 31, 2016 | RCV000426925.2 |
| Uterine carcinosarcoma | Likely pathogenic (1) | no assertion criteria provided | May 31, 2016 | RCV000428536.2 |
| FBXW7-related neurodevelopmental disorder | Likely pathogenic (1) | criteria provided, single submitter | - | RCV003335089.1 |
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Submissions - Germline
Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.
Citations for germline classification of this variant
Text-mined citations for rs149680468...
Record last updated Sep 17, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.