NM_001281492.1(MSH6):c.2145dup (p.Glu716Ter) AND Hereditary cancer-predisposing syndrome

Clinical significance:Pathogenic (Last evaluated: Feb 1, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001015798.1

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]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001176673Ambry Geneticscriteria provided, single submitter
Pathogenic
(Feb 1, 2018)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not 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 Ambry Genetics, SCV001176673.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The c.2535dupT pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a duplication of T at nucleotide position 2535, causing a translational frameshift with a predicted alternate stop codon (p.E846*). This mutation has been previously reported in a cohort of Australian Lynch syndrome families (Talseth-Palmer BA et al. Hered Cancer Clin Pract. 2010 May;8:5). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Aug 27, 2021

Support Center