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NM_000179.3(MSH6):c.4002-8A>C AND not provided

Germline classification:
Benign/Likely benign (2 submissions)
Last evaluated:
May 9, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001711614.4

Allele description [Variation Report for NM_000179.3(MSH6):c.4002-8A>C]

NM_000179.3(MSH6):c.4002-8A>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.4002-8A>C
HGVS:
  • NC_000002.12:g.47806771A>C
  • NG_007111.1:g.28625A>C
  • NG_008397.1:g.103905T>G
  • NM_000179.3:c.4002-8A>CMANE SELECT
  • NM_001281492.2:c.3612-8A>C
  • NM_001281493.2:c.3096-8A>C
  • NM_001281494.2:c.3096-8A>C
  • LRG_219t1:c.4002-8A>C
  • LRG_219:g.28625A>C
  • NC_000002.11:g.48033910A>C
  • NM_000179.2:c.4002-8A>C
Links:
dbSNP: rs778957100
NCBI 1000 Genomes Browser:
rs778957100
Molecular consequence:
  • NM_000179.3:c.4002-8A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001281492.2:c.3612-8A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001281493.2:c.3096-8A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001281494.2:c.3096-8A>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001941872GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Benign
(Jul 21, 2015)
germlineclinical testing

Citation Link,

SCV004222036Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)
Likely benign
(May 9, 2023)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers.

Chan GHJ, Ong PY, Low JJH, Kong HL, Ow SGW, Tan DSP, Lim YW, Lim SE, Lee SC.

Oncotarget. 2018 Jul 17;9(55):30649-30660. doi: 10.18632/oncotarget.25769.

PubMed [citation]
PMID:
30093976
PMCID:
PMC6078133

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From GeneDx, SCV001941872.2

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

Description

This variant is associated with the following publications: (PMID: 30093976)

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004222036.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024