NM_000249.3(MLH1):c.*2926C>T

Variation ID: Help
89585
Review status: Help
reviewed by expert panel3 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Benign
Last evaluated:
Sep 5, 2013
Number of submission(s):
1
Condition(s):
Lynch syndrome[MedGen - Orphanet]
See supporting ClinVar records

Allele(s) Help

NM_000249.3(MLH1):c.*2926C>T

Allele ID:
95059
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.2
Genomic location:
  • Chr3: 37053579 (on Assembly GRCh38)
  • Chr3: 37095070 (on Assembly GRCh37)
HGVS:
  • NG_007109.2:g.65230C>T
  • NM_000249.3:c.*2926C>T
  • NC_000003.12:g.37053579C>T (GRCh38)
  • LRG_216t1:c.*2926C>T
  • NC_000003.11:g.37095070C>T (GRCh37)
  • LRG_216:g.65230C>T
Links:
dbSNP: 10849
NCBI 1000 Genomes Browser:
rs10849
Allele frequency:
GMAF 0.39700 (T)

Variant frequency in dbGaP Help

NM_000249.3(MLH1):c.*2926C>T

GRCh37 Chr3:37095070
Called variantsPotential variants
Sample count4089 of 5382no data

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Benign
(Sep 5, 2013)
reviewed by expert panel
(Guidelines v1.9)
researchgermlineInSiGHTSCV000106056.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
InSiGHTnot providednot providedgermlinenot providednot providedMAF >1%…Full description
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Aug 22, 2016