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NM_000179.3(MSH6):c.2296dup (p.His766fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 15, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000491021.4

Allele description [Variation Report for NM_000179.3(MSH6):c.2296dup (p.His766fs)]

NM_000179.3(MSH6):c.2296dup (p.His766fs)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.2296dup (p.His766fs)
HGVS:
  • NC_000002.12:g.47800279dup
  • NG_007111.1:g.22133dup
  • NM_000179.3:c.2296dupMANE SELECT
  • NM_001281492.2:c.1906dup
  • NM_001281493.2:c.1390dup
  • NM_001281494.2:c.1390dup
  • NP_000170.1:p.His766fs
  • NP_001268421.1:p.His636fs
  • NP_001268422.1:p.His464fs
  • NP_001268423.1:p.His464fs
  • LRG_219:g.22133dup
  • NC_000002.11:g.48027418dup
  • NM_000179.2:c.2296dupC
Protein change:
H464fs
Links:
dbSNP: rs1114167712
NCBI 1000 Genomes Browser:
rs1114167712
Molecular consequence:
  • NM_000179.3:c.2296dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281492.2:c.1906dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281493.2:c.1390dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281494.2:c.1390dup - 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; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000580156Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jan 15, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000580156.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.2296dupC pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a duplication of C at nucleotide position 2296, causing a translational frameshift with a predicted alternate stop codon (p.H766Pfs*6). 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
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024