Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000179.2(MSH6):c.3729A>G (p.Thr1243=)

Help
Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
8 (Most recent: Jul 4, 2021)
Last evaluated:
Nov 30, 2020
Accession:
VCV000183754.11
Variation ID:
183754
Description:
single nucleotide variant
Help

NM_000179.2(MSH6):c.3729A>G (p.Thr1243=)

Allele ID
182177
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p16.3
Genomic location
2: 47806286 (GRCh38) GRCh38 UCSC
2: 48033425 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.48033425A>G
NC_000002.12:g.47806286A>G
NM_000179.2:c.3729A>G NP_000170.1:p.Thr1243= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:47806285:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00005
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA014121
dbSNP: rs773807182
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Sep 12, 2016 RCV000162468.4
Likely benign 2 criteria provided, multiple submitters, no conflicts Sep 25, 2018 RCV000193665.3
Likely benign 2 criteria provided, multiple submitters, no conflicts Aug 1, 2020 RCV001284020.2
Likely benign 1 criteria provided, single submitter Nov 30, 2020 RCV000225874.7
Likely benign 1 criteria provided, single submitter Feb 20, 2018 RCV000663040.1
Help
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
5623 5657

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Sep 12, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000685437.1
Submitted: (Oct 26, 2017)
Evidence details
Likely benign
(Feb 20, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary nonpolyposis colorectal cancer type 5
Allele origin: unknown
Counsyl
Accession: SCV000786082.2
Submitted: (Jun 20, 2018)
Evidence details
Likely benign
(Sep 23, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001157716.1
Submitted: (Aug 05, 2019)
Evidence details
Likely benign
(Sep 25, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000248076.2
Submitted: (Mar 06, 2020)
Evidence details
Likely benign
(Apr 10, 2015)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000212831.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, … (more)
Likely benign
(Nov 30, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary nonpolyposis colorectal neoplasms
Allele origin: germline
Invitae
Accession: SCV000283819.7
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Nov 11, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: unknown
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001469576.1
Submitted: (Dec 31, 2020)
Evidence details
Likely benign
(Aug 01, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001501272.2
Submitted: (Jul 04, 2021)
Evidence details

Functional evidence

Help
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

Help
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 rs773807182...

Help
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 Jul 10, 2021