NM_003242.5(TGFBR2):c.944C>T (p.Thr315Met)

Variation ID: Help
12502
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_003242.5(TGFBR2):c.944C>T (p.Thr315Met)

Allele ID:
27541
Variant type:
single nucleotide variant
Cytogenetic location:
3p24.1
Genomic location:
  • Chr3: 30672127 (on Assembly GRCh38)
  • Chr3: 30713619 (on Assembly GRCh37)
Protein change:
T315M, T340M
HGVS:
  • NG_007490.1:g.70626C>T
  • NM_001024847.2:c.1019C>T
  • NM_003242.5:c.944C>T
  • NP_001020018.1:p.Thr340Met
  • NP_003233.4:p.Thr315Met
  • NC_000003.12:g.30672127C>T (GRCh38)
  • LRG_779t1:c.1019C>T
  • NC_000003.11:g.30713619C>T (GRCh37)
  • P37173:p.Thr315Met
  • LRG_779p1:p.Thr340Met
  • LRG_779:g.70626C>T
Links:
NCBI 1000 Genomes Browser:
rs34833812
Molecular consequence:
NM_001024847.2:c.1019C>T: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.00008 (T)
  • GMAF 0.00300 (T)
  • ExAC 0.00101 (T)

Variant frequency in dbGaP Help

NM_003242.5(TGFBR2):c.944C>T (p.Thr315Met)

GRCh37 Chr3:30713619
Called variantsPotential variants
Sample count0 of 29528 of 40904

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
(Nov 5, 2012)
criteria provided, single submitter
clinical testinggermline
    Ambry Genetics,SCV000317327.1
    Likely benign
    (Jun 14, 2016)
    criteria provided, single submitter
    clinical testinggermline
      Illumina Clinical Services Laboratory,IlluminaSCV000442862.2
      Likely benign
      (Jun 14, 2016)
      criteria provided, single submitter
      clinical testinggermline
        Illumina Clinical Services Laboratory,IlluminaSCV000442863.2
        Likely benign
        (Jun 14, 2016)
        criteria provided, single submitter
        clinical testinggermline
          Illumina Clinical Services Laboratory,IlluminaSCV000442864.2
          Likely benign
          (Dec 27, 2016)
          criteria provided, single submitter
          clinical testinggermline
            GeneDxSCV000514893.1
            Benign
            (Oct 18, 2016)
            criteria provided, single submitter
            clinical testinggermline
              InvitaeSCV000559153.1
              Pathogenic
              (May 1, 1998)
              no assertion criteria providedliterature only
              • Hereditary nonpolyposis colorectal cancer type 6[MedGen | OMIM]
              germlineOMIMSCV000033572.1
              SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
              Total for all submittersnot provided1germlinenot providednot provided
              Ambry Genetics,not provided1germlinenot providednot providednot providednot provided
              GeneDxnot providednot providedgermlinenot providednot providednot providedThis variant is considered likā€¦Full description
              Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot providednot provided
              Invitaenot providednot providedgermlinenot providednot providednot providednot provided
              OMIMnot providednot providedgermlinenot providednot providednot provided
              SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

              Last Updated: May 20, 2017