NM_001281492.1(MSH6):c.2145dup (p.Glu716Ter) AND Hereditary nonpolyposis colorectal cancer type 5

Clinical significance:Pathogenic (Last evaluated: Mar 8, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000410929.1

Allele description [Variation Report for NM_001281492.1(MSH6):c.2145dup (p.Glu716Ter)]

NM_001281492.1(MSH6):c.2145dup (p.Glu716Ter)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_001281492.1(MSH6):c.2145dup (p.Glu716Ter)
HGVS:
  • NC_000002.12:g.47800518dup
  • NG_007111.1:g.22372dup
  • NM_001281492.1:c.2145dup
  • NM_001281493.1:c.1629dup
  • NM_001281494.1:c.1629dup
  • NP_001268421.1:p.Glu716Ter
  • NP_001268422.1:p.Glu544Ter
  • NP_001268423.1:p.Glu544Ter
  • LRG_219t1:c.2535dup
  • LRG_219:g.22372dup
  • LRG_219p1:p.Glu846Ter
  • NC_000002.11:g.48027657dup
  • NM_000179.2:c.2535dupT
Protein change:
E544*
Links:
dbSNP: rs587779241
NCBI 1000 Genomes Browser:
rs587779241
Molecular consequence:
  • NM_001281492.1:c.2145dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281493.1:c.1629dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281494.1:c.1629dup - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hereditary nonpolyposis colorectal cancer type 5 (HNPCC5)
Synonyms:
Hereditary non-polyposis colorectal cancer, type 5
Identifiers:
MONDO: MONDO:0013710; MedGen: C1833477; Orphanet: 144; OMIM: 614350

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000488331Counsylcriteria provided, single submitter
Pathogenic
(Mar 8, 2016)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.

Talseth-Palmer BA, McPhillips M, Groombridge C, Spigelman A, Scott RJ.

Hered Cancer Clin Pract. 2010 May 21;8(1):5. doi: 10.1186/1897-4287-8-5.

PubMed [citation]
PMID:
20487569
PMCID:
PMC2890527

Details of each submission

From Counsyl, SCV000488331.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 27, 2021

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