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NM_000251.3(MSH2):c.687dup (p.Ala230fs) AND not provided

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV001353749.1

Allele description [Variation Report for NM_000251.3(MSH2):c.687dup (p.Ala230fs)]

NM_000251.3(MSH2):c.687dup (p.Ala230fs)

Gene:
MSH2:mutS homolog 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_000251.3(MSH2):c.687dup (p.Ala230fs)
HGVS:
  • NC_000002.12:g.47412455dup
  • NG_007110.2:g.14332dup
  • NM_000251.3:c.687dupMANE SELECT
  • NM_001258281.1:c.489dup
  • NP_000242.1:p.Ala230fs
  • NP_001245210.1:p.Ala164fs
  • LRG_218:g.14332dup
  • NC_000002.11:g.47639587_47639588insA
  • NC_000002.11:g.47639594dup
  • NM_000251.1:c.687dup
  • NM_000251.1:c.687dupA
  • NM_000251.2:c.687dupA
  • NM_000251.3:c.687dup
Protein change:
A164fs
Links:
dbSNP: rs63749897
NCBI 1000 Genomes Browser:
rs63749897
Molecular consequence:
  • NM_000251.3:c.687dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001258281.1:c.489dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000592477Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Uncertain significanceunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes0not providednot providednot providednot providedclinical testing

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000592477.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided0not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided0not providednot providednot provided

Last Updated: Sep 29, 2024