NM_000251.2(MSH2):c.610G>A (p.Gly204Arg) AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: Mar 4, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000215932.1

Allele description

NM_000251.2(MSH2):c.610G>A (p.Gly204Arg)

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.2(MSH2):c.610G>A (p.Gly204Arg)
HGVS:
  • NC_000002.12:g.47410337G>A
  • NG_007110.2:g.12214G>A
  • NM_000251.2:c.610G>A
  • NP_000242.1:p.Gly204Arg
  • LRG_218t1:c.610G>A
  • LRG_218:g.12214G>A
  • LRG_218p1:p.Gly204Arg
  • NC_000002.11:g.47637476G>A
  • NM_000251.1:c.610G>A
  • p.G204R:GGA>AGA
Protein change:
G204R
Links:
dbSNP: rs63750574
NCBI 1000 Genomes Browser:
rs63750574
Molecular consequence:
  • NM_000251.2:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:
MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000274151Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Mar 4, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000274151.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 2, 2016