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.2440A>C (p.Lys814Gln)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 29, 2019)
Last evaluated:
Sep 13, 2016
Accession:
VCV000418327.2
Variation ID:
418327
Description:
single nucleotide variant
Help

NM_000179.2(MSH6):c.2440A>C (p.Lys814Gln)

Allele ID
405901
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p16.3
Genomic location
2: 47800423 (GRCh38) GRCh38 UCSC
2: 48027562 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.48027562A>C
NC_000002.12:g.47800423A>C
NM_000179.2:c.2440A>C NP_000170.1:p.Lys814Gln missense
... more HGVS
Protein change
K814Q
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16617673
dbSNP: rs1064793190
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Feb 28, 2015 RCV000481483.1
Uncertain significance 1 criteria provided, single submitter Sep 13, 2016 RCV000570127.1
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
Uncertain significance
(Sep 13, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000669919.2
Submitted: (Jul 30, 2018)
Evidence details
Comment:
Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (benign)
Uncertain significance
(Feb 28, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000565224.3
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This variant is denoted MSH6 c.2440A>C at the cDNA level, p.Lys814Gln (K814Q) at the protein level, and results in the change of a Lysine to ... (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