NM_000179.2(MSH6):c.3729A>G (p.Thr1243=) AND not specified

Clinical significance:Likely benign (Last evaluated: Sep 25, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000193665.3

Allele description [Variation Report for NM_000179.2(MSH6):c.3729A>G (p.Thr1243=)]

NM_000179.2(MSH6):c.3729A>G (p.Thr1243=)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.2(MSH6):c.3729A>G (p.Thr1243=)
HGVS:
  • NC_000002.12:g.47806286A>G
  • NG_007111.1:g.28140A>G
  • NG_008397.1:g.104390T>C
  • NM_000179.2:c.3729A>G
  • NM_001281492.1:c.3339A>G
  • NM_001281493.1:c.2823A>G
  • NM_001281494.1:c.2823A>G
  • NP_000170.1:p.Thr1243=
  • NP_001268421.1:p.Thr1113=
  • NP_001268422.1:p.Thr941=
  • NP_001268423.1:p.Thr941=
  • LRG_219t1:c.3729A>G
  • LRG_219:g.28140A>G
  • LRG_219p1:p.Thr1243=
  • NC_000002.11:g.48033425A>G
  • p.T1243T
Links:
dbSNP: rs773807182
NCBI 1000 Genomes Browser:
rs773807182
Molecular consequence:
  • NM_000179.2:c.3729A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001281492.1:c.3339A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001281493.1:c.2823A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001281494.1:c.2823A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000248076Genetic Services Laboratory, University of Chicagocriteria provided, single submitter
Likely benign
(Sep 25, 2018)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001157716ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Likely benign
(Sep 23, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000248076.2

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

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV001157716.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 10, 2021

Support Center