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NM_000179.3(MSH6):c.3952A>T (p.Arg1318Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 27, 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:
RCV002352477.2

Allele description [Variation Report for NM_000179.3(MSH6):c.3952A>T (p.Arg1318Ter)]

NM_000179.3(MSH6):c.3952A>T (p.Arg1318Ter)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.3952A>T (p.Arg1318Ter)
HGVS:
  • NC_000002.12:g.47806602A>T
  • NG_007111.1:g.28456A>T
  • NG_008397.1:g.104074T>A
  • NM_000179.3:c.3952A>TMANE SELECT
  • NM_001281492.2:c.3562A>T
  • NM_001281493.2:c.3046A>T
  • NM_001281494.2:c.3046A>T
  • NP_000170.1:p.Arg1318Ter
  • NP_001268421.1:p.Arg1188Ter
  • NP_001268422.1:p.Arg1016Ter
  • NP_001268423.1:p.Arg1016Ter
  • LRG_219t1:c.3952A>T
  • LRG_219:g.28456A>T
  • NC_000002.11:g.48033741A>T
  • NM_000179.2:c.3952A>T
  • p.Arg1318X
Protein change:
R1016*
Links:
dbSNP: rs1572747685
NCBI 1000 Genomes Browser:
rs1572747685
Molecular consequence:
  • NM_000179.3:c.3952A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281492.2:c.3562A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281493.2:c.3046A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001281494.2:c.3046A>T - nonsense - [Sequence Ontology: SO:0001587]

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002621041Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Pathogenic
(Aug 27, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002621041.2

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

Description

The p.R1318* pathogenic mutation (also known as c.3952A>T), located in coding exon 9 of the MSH6 gene, results from an A to T substitution at nucleotide position 3952. This changes the amino acid from an arginine to a stop codon within coding exon 9. This alteration is expected to result in loss of function by premature protein truncation. 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