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NM_000179.3(MSH6):c.3744_3773del (p.His1248_Ser1257del) AND not specified

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:
RCV000202077.9

Allele description [Variation Report for NM_000179.3(MSH6):c.3744_3773del (p.His1248_Ser1257del)]

NM_000179.3(MSH6):c.3744_3773del (p.His1248_Ser1257del)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.3744_3773del (p.His1248_Ser1257del)
HGVS:
  • NC_000002.12:g.47806301_47806330del
  • NG_007111.1:g.28155_28184del
  • NG_008397.1:g.104350_104379del
  • NM_000179.3:c.3744_3773delMANE SELECT
  • NM_001281492.2:c.3354_3383del
  • NM_001281493.2:c.2838_2867del
  • NM_001281494.2:c.2838_2867del
  • NP_000170.1:p.His1248_Ser1257del
  • NP_000170.1:p.His1248_Ser1257del
  • NP_001268421.1:p.His1118_Ser1127del
  • NP_001268422.1:p.His946_Ser955del
  • NP_001268423.1:p.His946_Ser955del
  • LRG_219t1:c.3744_3773del
  • LRG_219:g.28155_28184del
  • LRG_219p1:p.His1248_Ser1257del
  • NC_000002.11:g.48033436_48033465del
  • NC_000002.11:g.48033440_48033469del
  • NM_000179.2:c.3744_3773del
  • NM_000179.2:c.3744_3773del
  • NM_000179.2:c.3744_3773del30
  • NM_000179.2:c.3744_3773del30
  • NM_000179.2:c.3744_3773delCTACCATTCATTAGTAGAAGATTATTCTCA
Links:
dbSNP: rs863225412
NCBI 1000 Genomes Browser:
rs863225412
Molecular consequence:
  • NM_000179.3:c.3744_3773del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001281492.2:c.3354_3383del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001281493.2:c.2838_2867del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001281494.2:c.2838_2867del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000257276Mayo Clinic Laboratories, Mayo Clinic
no assertion criteria provided
Uncertain significanceunknownresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot providednot providednot providedresearch

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000257276.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024