NM_002769.4(PRSS1):c.365G>A (p.Arg122His)

Variation ID: Help
11876
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_002769.4(PRSS1):c.365G>A (p.Arg122His)

Allele ID:
26915
Variant type:
single nucleotide variant
Cytogenetic location:
7q34
Genomic location:
  • Chr7: 142751938 (on Assembly GRCh38)
  • Chr7: 142459789 (on Assembly GRCh37)
Other names:
  • PRSS1, ARG122HIS, 365G-A
Protein change:
R122H
HGVS:
  • NG_008307.3:g.7455G>A
  • NM_002769.4:c.365G>A
  • NP_002760.1:p.Arg122His
  • NC_000007.14:g.142751938G>A (GRCh38)
  • NC_000007.13:g.142459789G>A (GRCh37)
  • NG_008307.2:g.7460G>A
  • P07477:p.Arg122His
Links:
NCBI 1000 Genomes Browser:
rs111033565
Molecular consequence:
NM_002769.4:c.365G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
ExAC 0.00003 (A)

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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
Pathogenic
(Aug 18, 2011)
criteria provided, single submitter
clinical testing, literature onlygermlineLaboratory Corporation of America,SCV000053050.1
Pathogenic
(Jan 16, 2017)
criteria provided, single submitter
clinical testinggermline
    InvitaeSCV000552151.1
    Pathogenic
    (Mar 16, 2017)
    criteria provided, single submitter
    clinical testinggermline
      GeneDxSCV000568661.2
      Pathogenic
      (Mar 1, 2012)
      no assertion criteria providedliterature onlygermline, not providedGeneReviewsSCV000054559.1
      Pathogenic
      (Aug 1, 2006)
      no assertion criteria providedliterature onlygermlineOMIMSCV000032886.1
      SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
      Total for all submittersnot provided26germline, not providednot providednot provided
      GeneDxnot providednot providedgermlinenot providednot providednot providedThe R122H variant in the PRSS1…Full description
      GeneReviewsnot providednot providedgermline, not providednot providednot providedConverted during submission to…Full description
      Invitaenot providednot providedgermlinenot providednot providednot providedThis sequence change replaces …Full description
      Laboratory Corporation of America,not provided26germlinenot providednot providedConverted during submission to…Full description
      OMIMnot providednot providedgermlinenot providednot providednot provided
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

      Last Updated: Sep 14, 2017