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NM_000179.2(MSH6):c.3893A>G (p.Tyr1298Cys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 29, 2019)
Last evaluated:
Jul 22, 2018
Accession:
VCV000185867.3
Variation ID:
185867
Description:
single nucleotide variant
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NM_000179.2(MSH6):c.3893A>G (p.Tyr1298Cys)

Allele ID
182185
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p16.3
Genomic location
2: 47806543 (GRCh38) GRCh38 UCSC
2: 48033682 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.48033682A>G
NC_000002.12:g.47806543A>G
NM_000179.2:c.3893A>G NP_000170.1:p.Tyr1298Cys missense
... more HGVS
Protein change
Y1298C
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA014634
dbSNP: rs786202520
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Jul 22, 2018 RCV000165367.5
Uncertain significance 1 criteria provided, single submitter Apr 1, 2016 RCV000482477.1
Uncertain significance 1 criteria provided, single submitter Mar 31, 2018 RCV000630080.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MSH6 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
4042 4068

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 31, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary nonpolyposis colon cancer
Allele origin: germline
Invitae
Accession: SCV000751036.2
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces tyrosine with cysteine at codon 1298 of the MSH6 protein (p.Tyr1298Cys). The tyrosine residue is highly conserved and there is a ... (more)
Uncertain significance
(Jan 13, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000216093.4
Submitted: (Jul 30, 2018)
Evidence details
Comment:
Lines of evidence used in support of classification: Insufficient or conflicting evidence
Uncertain significance
(Apr 01, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000569813.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This variant is denoted MSH6 c.3893A>G at the cDNA level, p.Tyr1298Cys (Y1298C) at the protein level, and results in the change of a Tyrosine to ... (more)
Uncertain significance
(Jul 22, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color
Accession: SCV000690419.2
Submitted: (Nov 06, 2018)
Evidence details

Citations for this variant

Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Record last updated Oct 27, 2019