NM_003000.2(SDHB):c.423+20T>A

Variation ID: Help
36769
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Conflicting interpretations of pathogenicity
Benign(1);Likely benign(1);Likely pathogenic(1)
Last evaluated:
Nov 10, 2015
Number of submission(s):
3
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_003000.2(SDHB):c.423+20T>A

Allele ID:
45430
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.1
Genomic location:
  • Chr1: 17028580 (on Assembly GRCh38)
  • Chr1: 17355075 (on Assembly GRCh37)
HGVS:
  • NG_012340.1:g.30591T>A
  • NM_003000.2:c.423+20T>A
  • NC_000001.11:g.17028580A>T (GRCh38)
  • LRG_316t1:c.423+20T>A
  • NC_000001.10:g.17355075A>T (GRCh37)
  • LRG_316:g.30591T>A
Links:
dbSNP: 190139590
NCBI 1000 Genomes Browser:
rs190139590
Molecular consequence:
NM_003000.2:c.423+20T>A: intron variant [Sequence Ontology SO:0001627]
Allele frequency:
GMAF 0.00120 (T)

1 Affected gene

Variant frequency in dbGaP Help

NM_003000.2(SDHB):c.423+20T>A

GRCh37 Chr1:17355075
Called variantsPotential variants
Sample count34 of 8706184 of 40906

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 name
(Last submitted)
Submission accession
Likely pathogenic
(Aug 18, 2011)
criteria provided, single submitter
(LabCorp Variant Classification Summary - May 2015)
clinical testing, literature only
  • Pheochromocytoma (Autosomal dominant inheritance)[MedGen | OMIM]
germlineLabCorp

(Aug 18, 2011)

SCV000053117.1
Likely benign
(Sep 9, 2014)
criteria provided, single submitter
(GeneDx Variant Classification (06012015))
clinical testinggermline
    GeneDx

    (May 4, 2015)

    SCV000235628.2
    Benign
    (Nov 10, 2015)
    criteria provided, single submitter
    (Invitae Variant Classification Sherloc (09022015))
    clinical testinggermline
      Invitae

      (Jan 6, 2016)

      SCV000262420.1
      SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
      Total for all submittersnot provided3germlinenot providednot provided
      GeneDxnot providednot providedgermlinenot providednot providedThe variant is found in the SD…Full description
      Invitaenot providednot providedgermlinenot providednot providednot provided
      LabCorpnot provided3germlinenot providednot providednot provided
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription
      GeneDxgermlinenot providednot provided (yes)not providednot providednot provided
      Invitaegermlinenot provided
      • Gastrointestinal stromal tumor (unknown)
      • Paragangliomas 4 (unknown)
      • Pheochromocytoma (unknown)
      not providednot providednot provided
      LabCorpgermline1Pheochromocytoma (yes)not providednot providedVariant detected in 41 yr old female pt with adrenal phaeochromocytoma, variant listed as splice site based on predictive models but author mentions …Full description
      LabCorpgermline1Pheochromocytoma (yes)not providednot providedVariant detected in 48 yr old male pt with adrenal phaeochromocytoma, other clinical features include Cartoid artery dissection, patent foramen ovale…Full description
      LabCorpgermline1Pheochromocytoma (unknown)not providednot providednot provided

      Last Updated: Apr 27, 2016