MSH6:c.3647-51_3647-35del17 AND not specified

Clinical significance:Benign

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000202136.1

Allele description [Variation Report for MSH6:c.3647-51_3647-35del17]

MSH6:c.3647-51_3647-35del17

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
MSH6:c.3647-51_3647-35del17
HGVS:
  • NC_000002.12:g.47806136_47806152TTTGTTTTAATTCCTTT[1]
  • NG_007111.1:g.27990_28006TTTGTTTTAATTCCTTT[1]
  • NG_008397.1:g.104509_104525AGGAATTAAAACAAAAA[1]
  • NM_000179.2:c.3647-51_3647-35del
  • NM_001281492.1:c.3257-51_3257-35del
  • NM_001281493.1:c.2741-51_2741-35del
  • NM_001281494.1:c.2741-51_2741-35del
  • LRG_219t1:c.3647-51_3647-35del
  • LRG_219:g.27990_28006TTTGTTTTAATTCCTTT[1]
  • NC_000002.11:g.48033275_48033291TTTGTTTTAATTCCTTT[1]
  • NM_000179.2:c.3647-51_3647-35delTTTGTTTTAATTCCTTT
  • NM_000179.2:c.3647-68_3647-52delTTTGTTTTAATTCCTTT
Links:
dbSNP: rs267607687
NCBI 1000 Genomes Browser:
rs267607687
Molecular consequence:
  • NM_000179.2:c.3647-51_3647-35del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001281492.1:c.3257-51_3257-35del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001281493.1:c.2741-51_2741-35del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001281494.1:c.2741-51_2741-35del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000257271Mayo Clinic Laboratories, Mayo Clinicno assertion criteria providedBenignunknownresearch

SCV000257272Mayo Clinic Laboratories, Mayo Clinicno assertion criteria providedBenignunknownresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown308not providednot providednot providednot providedresearch

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000257271.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided268not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot provided268not providednot providednot provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV000257272.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided40not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot provided40not providednot providednot provided

Last Updated: May 19, 2021

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