NM_000251.3(MSH2):c.1276+1G>A AND not provided

Clinical significance:Pathogenic (Last evaluated: Jul 1, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000786795.4

Allele description [Variation Report for NM_000251.3(MSH2):c.1276+1G>A]

NM_000251.3(MSH2):c.1276+1G>A

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.1276+1G>A
HGVS:
  • NC_000002.12:g.47429942G>A
  • NG_007110.2:g.31819G>A
  • NM_000251.3:c.1276+1G>AMANE SELECT
  • NM_001258281.1:c.1078+1G>A
  • LRG_218t1:c.1276+1G>A
  • LRG_218:g.31819G>A
  • NC_000002.11:g.47657081G>A
  • NM_000251.1:c.1276+1G>A
  • NM_000251.2:c.1276+1G>A
Links:
dbSNP: rs267607950
NCBI 1000 Genomes Browser:
rs267607950
Molecular consequence:
  • NM_000251.3:c.1276+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001258281.1:c.1078+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
Functional consequence:
sequence_variant_affecting_splicing [Sequence Ontology: SO:1000071] - Comment(s)
Observations:
4

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000925685MutSpliceDB: a database of splice sites variants effects on splicing,NIHno assertion providednot providednot applicablein vitro

Citation Link,

SCV001249232CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(Jul 1, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes4not providednot providednot providednot providedclinical testing
not providednot applicablenot applicablenot providednot providednot providednot providednot providedin vitro

Details of each submission

From MutSpliceDB: a database of splice sites variants effects on splicing,NIH, SCV000925685.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedin vitronot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not applicablenot applicablenot providednot providednot providednot providednot providednot providednot provided

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001249232.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided4not providednot providednot provided

Last Updated: Dec 2, 2021

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