NM_000249.3(MLH1):c.655A>G (p.Ile219Val) AND not provided

Clinical significance:Benign (Last evaluated: Jul 13, 2012)

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000034548.1

Allele description [Variation Report for ]

NM_000249.3(MLH1):c.655A>G (p.Ile219Val)

Gene:
MLH1:mutL homolog 1 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000249.3(MLH1):c.655A>G (p.Ile219Val)
HGVS:
  • NC_000003.12:g.37012077A>G
  • NG_007109.2:g.23728A>G
  • NM_000249.3:c.655A>G
  • NP_000240.1:p.Ile219Val
  • LRG_216t1:c.655A>G
  • LRG_216:g.23728A>G
  • LRG_216p1:p.Ile219Val
  • NC_000003.11:g.37053568A>G
  • c.655A>G
  • p.I219V
Protein change:
I219V
Links:
dbSNP: 1799977
GMAF:
0.1296(G), 1799977
NCBI 1000 Genomes Browser:
rs1799977
Allele Frequency:
0.243, GO-ESP
Molecular consequence:
  • NM_001167618.1:c.-69A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000249.3:c.655A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN221809

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000043321Biesecker Laboratory - ClinSeq Project, NHGRI - ClinSeqclassified by single submitterno known pathogenicity
(Jul 13, 2012)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineno288not providednot provided571not providedresearch

Citations

PubMed

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG.

Am J Hum Genet. 2012 Jul 13;91(1):97-108. doi: 10.1016/j.ajhg.2012.05.021. Epub 2012 Jun 14.

PubMed [citation]
PMID:
22703879
PMCID:
PMC3397257

Details of each submission

From Biesecker Laboratory - ClinSeq Project, NHGRI - ClinSeq, SCV000043321.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided288not providednot providedresearch PubMed (1)

Description

The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See PubMed ID:22703879 for details.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineno571not provideddiscovery288not providednot providednot provided

Last Updated: Apr 8, 2015