NM_000179.3(MSH6):c.2932C>T (p.Gln978Ter) AND Hereditary cancer-predisposing syndrome

Clinical significance:Pathogenic (Last evaluated: Jul 2, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000129185.3

Allele description [Variation Report for NM_000179.3(MSH6):c.2932C>T (p.Gln978Ter)]

NM_000179.3(MSH6):c.2932C>T (p.Gln978Ter)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.2932C>T (p.Gln978Ter)
HGVS:
  • NC_000002.12:g.47800915C>T
  • NG_007111.1:g.22769C>T
  • NM_000179.2:c.2932C>T
  • NM_000179.3:c.2932C>TMANE SELECT
  • NM_001281492.2:c.2542C>T
  • NM_001281493.2:c.2026C>T
  • NM_001281494.2:c.2026C>T
  • NP_000170.1:p.Gln978Ter
  • NP_000170.1:p.Gln978Ter
  • NP_001268421.1:p.Gln848Ter
  • NP_001268422.1:p.Gln676Ter
  • NP_001268423.1:p.Gln676Ter
  • LRG_219t1:c.2932C>T
  • LRG_219:g.22769C>T
  • LRG_219p1:p.Gln978Ter
  • NC_000002.11:g.48028054C>T
  • p.Q978*
Protein change:
Q676*
Links:
dbSNP: rs587781372
NCBI 1000 Genomes Browser:
rs587781372
Molecular consequence:
  • NM_000179.2:c.2932C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_000179.3:c.2932C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281492.2:c.2542C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281493.2:c.2026C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281494.2:c.2026C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000183920Ambry Geneticscriteria provided, single submitter
Pathogenic
(Jul 2, 2019)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Molecular and clinical characteristics of MSH6 germline variants detected in colorectal cancer patients.

Terui H, Tachikawa T, Kakuta M, Nishimura Y, Yatsuoka T, Yamaguchi K, Yura K, Akagi K.

Oncol Rep. 2013 Dec;30(6):2909-16. doi: 10.3892/or.2013.2781. Epub 2013 Oct 2.

PubMed [citation]
PMID:
24100870

Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory.

Cragun D, Radford C, Dolinsky JS, Caldwell M, Chao E, Pal T.

Clin Genet. 2014 Dec;86(6):510-20. doi: 10.1111/cge.12359. Epub 2014 Mar 20.

PubMed [citation]
PMID:
24506336
PMCID:
PMC4127163

Details of each submission

From Ambry Genetics, SCV000183920.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

The p.Q978* pathogenic mutation (also known as c.2932C>T), located in coding exon 4 of the MSH6 gene, results from a C to T substitution at nucleotide position 2932. This changes the amino acid from a glutamine to a stop codon within coding exon 4. This pathogenic mutation has been reported in individuals with a personal and family history of Lynch syndrome related cancers (Terui H et al. Oncol. Rep. 2013 Dec; 30(6):2909-16; Cragun D et al. Clin. Genet. 2014 Dec; 86(6):510-20). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 25, 2021

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