NM_000179.2(MSH6):c.260+22C>G AND not provided

Clinical significance:Benign (Last evaluated: Mar 3, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001353436.2

Allele description [Variation Report for NM_000179.2(MSH6):c.260+22C>G]

NM_000179.2(MSH6):c.260+22C>G

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.2(MSH6):c.260+22C>G
HGVS:
  • NC_000002.12:g.47783515C>G
  • NG_007111.1:g.5369C>G
  • NM_000179.2:c.260+22C>G
  • NM_001281492.1:c.237+45C>G
  • NM_001281493.1:c.-477+22C>G
  • LRG_219t1:c.260+22C>G
  • LRG_219:g.5369C>G
  • NC_000002.11:g.48010654C>G
Links:
dbSNP: rs55927047
NCBI 1000 Genomes Browser:
rs55927047
Molecular consequence:
  • NM_000179.2:c.260+22C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001281492.1:c.237+45C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001281493.1:c.-477+22C>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000592565Department of Pathology and Laboratory Medicine,Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria providedUncertain significanceunknownclinical testing

SCV001863113GeneDxcriteria provided, single submitter
Benign
(Mar 3, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
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), SCV000592565.2

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

From GeneDx, SCV001863113.1

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

Last Updated: Sep 18, 2021

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