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

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Aug 10, 2020
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:
RCV001572081.4

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

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

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>A
HGVS:
  • NC_000002.12:g.47783228G>A
  • NG_007111.1:g.5082G>A
  • NM_000179.3:c.-6G>AMANE SELECT
  • NM_001281492.2:c.-6G>A
  • NM_001281493.2:c.-742G>A
  • LRG_219t1:c.-6G>A
  • LRG_219:g.5082G>A
  • NC_000002.11:g.48010367G>A
  • NM_000179.2:c.-6G>A
Links:
dbSNP: rs730881822
NCBI 1000 Genomes Browser:
rs730881822
Molecular consequence:
  • NM_000179.3:c.-6G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001281492.2:c.-6G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001281493.2:c.-742G>A - 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
SCV001796663GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Aug 10, 2020) 		germlineclinical testing

Citation Link,

SCV004228793GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknown1not providednot provided1not providedphenotyping only

Details of each submission

From GeneDx, SCV001796663.1

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

Description

Describes a nucleotide substitution 6 base pairs upstream of the ATG translational start site of the MSH6 gene, occurring in the Kozak sequence, the conserved nucleotides just upstream of the ATG start codon, which play a major role in the initiation of translation; Not observed in large population cohorts (Lek 2016); Nucleotide substitution has no predicted effect on splicing and is not conserved across species; Has not been previously published as pathogenic or benign to our knowledge

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

From GenomeConnect - Invitae Patient Insights Network, SCV004228793.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 02-18-2020 by Lab Myriad. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024