NM_000179.3(MSH6):c.3850dup (p.Thr1284fs) AND Hereditary cancer-predisposing syndrome

Clinical significance:Pathogenic (Last evaluated: Apr 1, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000583214.2

Allele description [Variation Report for NM_000179.3(MSH6):c.3850dup (p.Thr1284fs)]

NM_000179.3(MSH6):c.3850dup (p.Thr1284fs)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.3850dup (p.Thr1284fs)
HGVS:
  • NC_000002.12:g.47806500dup
  • NG_007111.1:g.28354dup
  • NG_008397.1:g.104176dup
  • NM_000179.2:c.3850dup
  • NM_000179.3:c.3850dupMANE SELECT
  • NM_001281492.2:c.3460dup
  • NM_001281493.2:c.2944dup
  • NM_001281494.2:c.2944dup
  • NP_000170.1:p.Thr1284fs
  • NP_000170.1:p.Thr1284fs
  • NP_001268421.1:p.Thr1154fs
  • NP_001268422.1:p.Thr982fs
  • NP_001268423.1:p.Thr982fs
  • LRG_219t1:c.3850dup
  • LRG_219:g.28354dup
  • LRG_219p1:p.Thr1284fs
  • NC_000002.11:g.48033638_48033639insA
  • NC_000002.11:g.48033639dup
  • NM_000179.2:c.3850dupA
Protein change:
T1154fs
Links:
dbSNP: rs1553333421
NCBI 1000 Genomes Browser:
rs1553333421
Molecular consequence:
  • NM_000179.3:c.3850dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281492.2:c.3460dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281493.2:c.2944dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281494.2:c.2944dup - frameshift variant - [Sequence Ontology: SO:0001589]

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000690414Color Health, Inccriteria provided, single submitter
Pathogenic
(Apr 1, 2020)
germlineclinical testing

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

Description

This variant inserts 1 nucleotide in exon 9 of the MSH6 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of MSH6 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

SCV000690414

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Color Health, Inc, SCV000690414.2

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

Last Updated: Nov 27, 2021

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