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NM_000251.3(MSH2):c.1035G>A (p.Trp345Ter) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Apr 23, 2018
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:
RCV000202230.5

Allele description [Variation Report for NM_000251.3(MSH2):c.1035G>A (p.Trp345Ter)]

NM_000251.3(MSH2):c.1035G>A (p.Trp345Ter)

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.3(MSH2):c.1035G>A (p.Trp345Ter)
HGVS:
  • NC_000002.12:g.47416388G>A
  • NG_007110.2:g.18265G>A
  • NM_000251.3:c.1035G>AMANE SELECT
  • NM_001258281.1:c.837G>A
  • NP_000242.1:p.Trp345Ter
  • NP_000242.1:p.Trp345Ter
  • NP_001245210.1:p.Trp279Ter
  • LRG_218t1:c.1035G>A
  • LRG_218:g.18265G>A
  • LRG_218p1:p.Trp345Ter
  • NC_000002.11:g.47643527G>A
  • NM_000251.1:c.1035G>A
  • NM_000251.2:c.1035G>A
Protein change:
W279*
Links:
dbSNP: rs63750396
NCBI 1000 Genomes Browser:
rs63750396
Molecular consequence:
  • NM_000251.3:c.1035G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001258281.1:c.837G>A - 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
SCV000257120Mayo Clinic Laboratories, Mayo Clinic
no assertion criteria provided
Pathogenicunknownresearch

SCV000779393GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Apr 23, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknown1not providednot providednot providednot providedresearch

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000257120.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV000779393.2

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

Description

This variant is denoted MSH2 c.1035G>A at the cDNA level and p.Trp345Ter (W345X) at the protein level. The substitution creates a nonsense variant, which changes a Tryptophan to a premature stop codon (TGG>TGA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in association with Lynch syndrome (Ponz de Leon 2004, Tang 2009, Vargas-Parra 2017) and is considered pathogenic.

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

Last Updated: Sep 29, 2024