NM_000306.3(POU1F1):c.143-4A>T

Variation ID: Help
36694
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Benign
Last evaluated:
Aug 18, 2011
Number of submission(s):
1
Condition(s):
Pituitary hormone deficiency, combined[MedGen - Orphanet]
See supporting ClinVar records

Allele(s) Help

NM_000306.3(POU1F1):c.143-4A>T

Allele ID:
45355
Variant type:
single nucleotide variant
Cytogenetic location:
3p11
Genomic location:
  • Chr3: 87273422 (on Assembly GRCh38)
  • Chr3: 87322572 (on Assembly GRCh37)
Protein change:
T73S
HGVS:
  • NG_008225.2:g.8166A>T
  • NM_000306.3:c.143-4A>T
  • NM_001122757.2:c.217A>T
  • NC_000003.12:g.87273422T>A (GRCh38)
  • NP_001116229.1:p.Thr73Ser
  • NC_000003.11:g.87322572T>A (GRCh37)
  • NM_000306.2:c.143-4A>T
Links:
dbSNP: 35893626
NCBI 1000 Genomes Browser:
rs35893626
Molecular consequence:
  • NM_000306.3:c.143-4A>T: intron variant SO:0001627
  • NM_001122757.2:c.217A>T: missense variant SO:0001583
Allele frequency:
  • GO-ESP 0.00300 (A)
  • GMAF 0.00380 (A)

Variant frequency in dbGaP Help

NM_000306.3(POU1F1):c.143-4A>T

GRCh37 Chr3:87322572
Called variantsPotential variants
Sample count15 of 3043109 of 40829

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
(Aug 18, 2011)
criteria provided, single submitter
(LabCorp Variant Classification Summary - May 2015)
clinical testing, literature only
  • Pituitary hormone deficiency, combined (autosomal unknown)[MedGen | Orphanet]
germline
    LabCorpSCV000053040.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    LabCorpnot provided2germlinenot providednot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Jun 24, 2016