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NM_000179.3(MSH6):c.182C>T (p.Ala61Val)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Sep 1, 2021)
Last evaluated:
Jun 24, 2020
Accession:
VCV000630499.9
Variation ID:
630499
Description:
single nucleotide variant
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NM_000179.3(MSH6):c.182C>T (p.Ala61Val)

Allele ID
616681
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p16.3
Genomic location
2: 47783415 (GRCh38) GRCh38 UCSC
2: 48010554 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.12:g.47783415C>T
NG_007111.1:g.5269C>T
NM_000179.3:c.182C>T MANE Select NP_000170.1:p.Ala61Val missense
... more HGVS
Protein change
A61V
Other names
-
Canonical SPDI
NC_000002.12:47783414:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Exome Aggregation Consortium (ExAC) 0.00028
Links
dbSNP: rs572336612
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 24, 2020 RCV000792082.3
Likely benign 1 criteria provided, single submitter Jul 12, 2019 RCV001585703.3
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Oct 9, 2019 RCV000776160.2
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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
5678 5712

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Apr 25, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000911215.1
Submitted: (Nov 06, 2018)
Evidence details
Uncertain significance
(Oct 09, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001173917.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.A61V variant (also known as c.182C>T), located in coding exon 1 of the MSH6 gene, results from a C to T substitution at nucleotide … (more)
Uncertain significance
(Jun 24, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary nonpolyposis colorectal neoplasms
Allele origin: germline
Invitae
Accession: SCV000931355.3
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces alanine with valine at codon 61 of the MSH6 protein (p.Ala61Val). The alanine residue is weakly conserved and there is a … (more)
Likely benign
(Jul 12, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001820087.1
Submitted: (Sep 01, 2021)
Evidence details

Functional evidence

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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 this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs572336612...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 06, 2021