VCV000089363.83 - ClinVar - NCBI (original) (raw)
- Classification Summary
- Variant Details
- Genes
- Germline
- Conditions
- Submissions
- Functional Evidence
- Citations
- Text mined Citations
NM_000179.3(MSH6):c.3261del (p.Phe1088fs)
Germline
Top reviewed classifications are shown here.
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
Identifiers
NM_000179.3(MSH6):c.3261del (p.Phe1088fs)
Variation ID: 89363 Accession: VCV000089363.83
Type and length
Deletion, 1 bp
Location
Cytogenetic:2p16.3 2: 47803501 (GRCh38) [ NCBI UCSC ] 2: 48030640 (GRCh37) [ 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 24, 2015 | Oct 8, 2024 | Sep 5, 2013 |
HGVS
... more HGVS ... less HGVS
Protein change
F958fs, F786fs
Other names
-
Canonical SPDI
NC_000002.12:47803500:CCCCCCCC:CCCCCCC
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.
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Allele frequency Help
The frequency of the allele represented by this VCV record.
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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. | |||
| MSH6 | Sufficient evidence for dosage pathogenicity | No evidence available | GRCh38GRCh37 | 9157 | 9471 |
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. |
|---|---|---|---|---|
| Mismatch repair cancer syndrome 3 | Pathogenic (1) | no assertion criteria provided | Nov 1, 2007 | RCV000009499.7 |
| Lynch syndrome | Pathogenic (5) | reviewed by expert panel | Sep 5, 2013 | RCV000074830.15 |
| Hereditary cancer-predisposing syndrome | Pathogenic (2) | criteria provided, multiple submitters, no conflicts | Feb 17, 2023 | RCV000115411.17 |
| not provided | Pathogenic (10) | criteria provided, multiple submitters, no conflicts | Jul 31, 2024 | RCV000202045.49 |
| Hereditary nonpolyposis colorectal neoplasms | Pathogenic (1) | criteria provided, single submitter | Jan 24, 2024 | RCV000524165.11 |
| Carcinoma of colon | Pathogenic (1) | no assertion criteria provided | - | RCV001353984.3 |
| Lynch-like syndrome | Pathogenic (1) | no assertion criteria provided | Jul 1, 2019 | RCV001249957.2 |
| Endometrial carcinoma | Pathogenic (4) | criteria provided, multiple submitters, no conflicts | Feb 23, 2024 | RCV001762178.7 |
| Lynch syndrome 5 | Pathogenic (5) | criteria provided, multiple submitters, no conflicts | Jun 28, 2024 | RCV001824596.7 |
| Endometrial carcinoma Lynch syndrome 5 Mismatch repair cancer syndrome 3 | Pathogenic (1) | criteria provided, single submitter | Dec 14, 2021 | RCV002498358.2 |
| Gastric cancer | Pathogenic (1) | no assertion criteria provided | Jul 1, 2021 | RCV003162476.2 |
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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 rs267608078...
Record last updated Oct 08, 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.