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NM_000251.3(MSH2):c.2519T>C (p.Val840Ala) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 17, 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:
RCV000482567.2

Allele description [Variation Report for NM_000251.3(MSH2):c.2519T>C (p.Val840Ala)]

NM_000251.3(MSH2):c.2519T>C (p.Val840Ala)

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.2519T>C (p.Val840Ala)
HGVS:
  • NC_000002.12:g.47480756T>C
  • NG_007110.2:g.82633T>C
  • NM_000251.3:c.2519T>CMANE SELECT
  • NM_001258281.1:c.2321T>C
  • NP_000242.1:p.Val840Ala
  • NP_000242.1:p.Val840Ala
  • NP_001245210.1:p.Val774Ala
  • LRG_218t1:c.2519T>C
  • LRG_218:g.82633T>C
  • LRG_218p1:p.Val840Ala
  • NC_000002.11:g.47707895T>C
  • NM_000251.1:c.2519T>C
  • NM_000251.2:c.2519T>C
Protein change:
V774A
Links:
dbSNP: rs1064794561
NCBI 1000 Genomes Browser:
rs1064794561
Molecular consequence:
  • NM_000251.3:c.2519T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258281.1:c.2321T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000569441GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Oct 17, 2018) 		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, SCV000569441.4

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

Description

This variant is denoted MSH2 c.2519T>C at the cDNA level, p.Val840Ala (V840A) at the protein level, and results in the change of a Valine to an Alanine (GTA>GCA). This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. MSH2 Val840Ala was not observed at a significant allele frequency in large population cohorts (Lek 2016). This variant is located in the ATPase domain (Lutzen 2008, Kansikas 2011). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether MSH2 Val840Ala is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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

Last Updated: Sep 29, 2024