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.115G>A (p.Gly39Arg)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Mar 28, 2019)
Last evaluated:
Aug 26, 2018
Accession:
VCV000483766.2
Variation ID:
483766
Description:
single nucleotide variant
Help

NM_000179.2(MSH6):c.115G>A (p.Gly39Arg)

Allele ID
472946
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p16.3
Genomic location
2: 47783348 (GRCh38) GRCh38 UCSC
2: 48010487 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.48010487G>A
NC_000002.12:g.47783348G>A
NM_000179.2:c.115G>A NP_000170.1:p.Gly39Arg missense
... more HGVS
Protein change
G39R
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA067220
dbSNP: rs751838296
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Apr 24, 2018 RCV000566299.2
Uncertain significance 1 criteria provided, single submitter Aug 26, 2018 RCV000805474.1
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
4042 4068

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Apr 24, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000669904.2
Submitted: (Jul 30, 2018)
Evidence details
Comment:
Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign),Other strong data supporting benign classification
Uncertain significance
(Aug 26, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary nonpolyposis colon cancer
Allele origin: germline
Invitae
Accession: SCV000945431.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces glycine with arginine at codon 39 of the MSH6 protein (p.Gly39Arg). The glycine residue is weakly conserved and there is a ... (more)

Citations for this variant

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

Record last updated Oct 27, 2019