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NM_000179.3(MSH6):c.-6G>C AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 20, 2023
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:
RCV001584107.5

Allele description [Variation Report for NM_000179.3(MSH6):c.-6G>C]

NM_000179.3(MSH6):c.-6G>C

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.-6G>C
HGVS:
  • NC_000002.12:g.47783228G>C
  • NG_007111.1:g.5082G>C
  • NM_000179.3:c.-6G>CMANE SELECT
  • NM_001281492.2:c.-6G>C
  • NM_001281493.2:c.-742G>C
  • LRG_219t1:c.-6G>C
  • LRG_219:g.5082G>C
  • NC_000002.11:g.48010367G>C
  • NM_000179.2:c.-6G>C
Links:
dbSNP: rs730881822
NCBI 1000 Genomes Browser:
rs730881822
Molecular consequence:
  • NM_000179.3:c.-6G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001281492.2:c.-6G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001281493.2:c.-742G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001820183GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Nov 20, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV001820183.2

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

Description

Alters the Kozak sequence, the nucleotides just upstream of the ATG start codon, which play a major role in the initiation of translation; Nucleotide substitution has no predicted effect on splicing and is not conserved across species; Not observed at significant frequency in large population cohorts (gnomAD); Identified in an individual with prostate cancer (PMID: 35534218); This variant is associated with the following publications: (PMID: 26888055, 35534218)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024