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NM_000251.3(MSH2):c.1962C>T (p.Asp654=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 10, 2021
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:
RCV001731675.9

Allele description [Variation Report for NM_000251.3(MSH2):c.1962C>T (p.Asp654=)]

NM_000251.3(MSH2):c.1962C>T (p.Asp654=)

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.1962C>T (p.Asp654=)
HGVS:
  • NC_000002.12:g.47475227C>T
  • NG_007110.2:g.77104C>T
  • NM_000251.3:c.1962C>TMANE SELECT
  • NM_001258281.1:c.1764C>T
  • NP_000242.1:p.Asp654=
  • NP_000242.1:p.Asp654=
  • NP_001245210.1:p.Asp588=
  • LRG_218t1:c.1962C>T
  • LRG_218:g.77104C>T
  • LRG_218p1:p.Asp654=
  • NC_000002.11:g.47702366C>T
  • NM_000251.1:c.1962C>T
  • NM_000251.2:c.1962C>T
Links:
dbSNP: rs751939698
NCBI 1000 Genomes Browser:
rs751939698
Molecular consequence:
  • NM_000251.3:c.1962C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001258281.1:c.1764C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001983437Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Likely benign
(Sep 10, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001983437.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024