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NM_000179.2(MSH6):c.952G>T (p.Glu318Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 30, 2018)
Last evaluated:
Sep 18, 2015
Accession:
VCV000428391.1
Variation ID:
428391
Description:
single nucleotide variant
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NM_000179.2(MSH6):c.952G>T (p.Glu318Ter)

Allele ID
419445
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p16.3
Genomic location
2: 47798935 (GRCh38) GRCh38 UCSC
2: 48026074 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.48026074G>T
NC_000002.12:g.47798935G>T
NM_000179.2:c.952G>T NP_000170.1:p.Glu318Ter nonsense
... more HGVS
Protein change
E318*
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA346740848
dbSNP: rs1114167763
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Sep 18, 2015 RCV000491698.1
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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
Pathogenic
(Sep 18, 2015)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000580295.3
Submitted: (Jul 30, 2018)
Evidence details

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