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NM_000251.3(MSH2):c.2515C>G (p.His839Asp) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV001175264.1

Allele description [Variation Report for NM_000251.3(MSH2):c.2515C>G (p.His839Asp)]

NM_000251.3(MSH2):c.2515C>G (p.His839Asp)

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.2515C>G (p.His839Asp)
HGVS:
  • NC_000002.12:g.47480752C>G
  • NG_007110.2:g.82629C>G
  • NM_000251.3:c.2515C>GMANE SELECT
  • NM_001258281.1:c.2317C>G
  • NP_000242.1:p.His839Asp
  • NP_000242.1:p.His839Asp
  • NP_001245210.1:p.His773Asp
  • LRG_218t1:c.2515C>G
  • LRG_218:g.82629C>G
  • LRG_218p1:p.His839Asp
  • NC_000002.11:g.47707891C>G
  • NM_000251.1:c.2515C>G
  • NM_000251.2:c.2515C>G
Protein change:
H773D
Links:
dbSNP: rs876659466
NCBI 1000 Genomes Browser:
rs876659466
Molecular consequence:
  • NM_000251.3:c.2515C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258281.1:c.2317C>G - 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
SCV001338861GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV001338861.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpretted as Uncertain significance and reported on 02-28-2018 by Lab or GTR ID Credit Valley Hospital Department of Laboratory Medicine. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: Sep 29, 2024