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NM_000179.2(MSH6):c.1444C>T (p.Arg482Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 25, 2016
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:
RCV000215386.1

Allele description

NM_000179.2(MSH6):c.1444C>T (p.Arg482Ter)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.2(MSH6):c.1444C>T (p.Arg482Ter)
HGVS:
  • NC_000002.12:g.47799427C>T
  • NG_007111.1:g.21281C>T
  • NM_000179.2:c.1444C>T
  • NP_000170.1:p.Arg482Ter
  • LRG_219t1:c.1444C>T
  • LRG_219:g.21281C>T
  • LRG_219p1:p.Arg482Ter
  • NC_000002.11:g.48026566C>T
Protein change:
R482*
Links:
dbSNP: rs63750909
NCBI 1000 Genomes Browser:
rs63750909
Molecular consequence:
  • NM_000179.2:c.1444C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN221809

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000279095GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Mar 25, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000279095.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This pathogenic variant is denoted MSH6 c.1444C>T at the cDNA level and p.Arg482Ter (R482X) at the protein level. The substitution creates a nonsense variant, which changes an Arginine to a premature stop codon (CGA>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been observed in multiple individuals with Lynch syndrome-associated cancers (Yurgelun 2015, Therkildsen 2015, Hendriks 2004, Sjursen 2010) and in colon cancers showing absence of MSH6 protein by immunohistochemistry (Okkels 2012). We therefore consider this variant to be pathogenic.

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

Last Updated: Nov 26, 2016