NM_016464.4(TMEM138):c.261G>A (p.Val87=)

Variation ID: Help
130586
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Benign/Likely benign
Last evaluated:
Dec 20, 2013
Number of submission(s):
2
See supporting ClinVar records

Allele(s) Help

NM_016464.4(TMEM138):c.261G>A (p.Val87=)

Allele ID:
136032
Variant type:
single nucleotide variant
Cytogenetic location:
11q12.2
Genomic location:
  • Chr11: 61366177 (on Assembly GRCh38)
  • Chr11: 61133649 (on Assembly GRCh37)
HGVS:
  • NG_032581.1:g.9177G>A
  • NM_016464.4:c.261G>A
  • NC_000011.10:g.61366177G>A (GRCh38)
  • NP_057548.1:p.Val87=
  • NR_028473.1:n.703G>A
  • NC_000011.9:g.61133649G>A (GRCh37)
Links:
dbSNP: 35245221
NCBI 1000 Genomes Browser:
rs35245221
Molecular consequence:
  • NM_016464.4:c.261G>A: synonymous variant SO:0001819
  • NR_028473.1:n.703G>A: non-coding transcript variant SO:0001619
Allele frequency:
  • GO-ESP 0.01922 (A)
  • GMAF 0.02260 (A)

Variant frequency in dbGaP Help

NM_016464.4(TMEM138):c.261G>A (p.Val87=)

GRCh37 Chr11:61133649
Called variantsPotential variants
Sample count134 of 9074836 of 40929

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.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Benign
(Dec 20, 2013)
criteria provided, single submitter
(GeneDx Variant Classification (06012015))
clinical testinggermline
    GeneDxSCV000168981.3
    Likely benignno assertion criteria providedclinical testing
    • not specified (Autosomal recessive inheritance)[MedGen]
    germline
      Genetic Services Laboratory, University of ChicagoSCV000153035.2
      SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
      Total for all submittersnot providednot providedgermlinenot providednot provided
      GeneDxnot providednot providedgermlinenot providednot providednot providedThis variant is considered lik…Full description
      Genetic Services Laboratory, University of Chicagonot providednot providedgermlinenot providednot providednot providedLikely benign based on allele …Full description
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

      Last Updated: Jul 24, 2016