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NM_000179.3(MSH6):c.3477del (p.Cys1158_Tyr1159insTer) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 6, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003478064.1

Allele description [Variation Report for NM_000179.3(MSH6):c.3477del (p.Cys1158_Tyr1159insTer)]

NM_000179.3(MSH6):c.3477del (p.Cys1158_Tyr1159insTer)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.3477del (p.Cys1158_Tyr1159insTer)
HGVS:
  • NC_000002.12:g.47804948del
  • NG_007111.1:g.26802del
  • NG_008397.1:g.105728del
  • NM_000179.3:c.3477delMANE SELECT
  • NM_001281492.2:c.3087del
  • NM_001281493.2:c.2571del
  • NM_001281494.2:c.2571del
  • NP_000170.1:p.Cys1158_Tyr1159insTer
  • NP_000170.1:p.Cys1158_Tyr1159insTer
  • NP_001268421.1:p.Cys1028_Tyr1029insTer
  • NP_001268422.1:p.Cys856_Tyr857insTer
  • NP_001268423.1:p.Cys856_Tyr857insTer
  • LRG_219t1:c.3477del
  • LRG_219:g.26802del
  • LRG_219p1:p.Cys1158_Tyr1159insTer
  • NC_000002.11:g.48032087del
  • NM_000179.2:c.3477del
  • NM_000179.2:c.3477delC
Links:
dbSNP: rs1114167767
NCBI 1000 Genomes Browser:
rs1114167767
Molecular consequence:
  • NM_000179.3:c.3477del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281492.2:c.3087del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281493.2:c.2571del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281494.2:c.2571del - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004221226Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Pathogenic
(Feb 6, 2023) 		unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Cancer Susceptibility Genetic Testing in a High-Risk Cohort of Urban Ashkenazi Jewish Individuals.

Nielsen SM, De Simone LM, Olopade OI.

J Genet Couns. 2018 Dec;27(6):1405-1410. doi: 10.1007/s10897-018-0269-x. Epub 2018 Jun 26.

PubMed [citation]
PMID:
29946849

Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel.

Yablonski-Peretz T, Paluch-Shimon S, Gutman LS, Kaplan Y, Dvir A, Barnes-Kedar I, Kadouri L, Semenisty V, Efrat N, Neiman V, Glasser Y, Michaelson-Cohen R, Katz L, Kaufman B, Golan T, Reish O, Hubert A, Safra T, Yaron Y, Friedman E.

Breast Cancer Res Treat. 2016 Jan;155(1):133-8. doi: 10.1007/s10549-015-3662-2. Epub 2015 Dec 19.

PubMed [citation]
PMID:
26687385
See all PubMed Citations (4)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004221226.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This frameshift variant alters the translational reading frame of the MSH6 mRNA and causes the premature termination of MSH6 protein synthesis. It has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published literature, the variant has been identified in individuals with colorectal cancer (PMID: 22081473 (2012)) and endometrial/pancreatic cancer (PMID: 26687385 (2016)). Based on the available information, this variant is classified as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024