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NM_003002.3(SDHD):c.305A>T (p.His102Leu)

Variation ID: Help
6898
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic/Likely pathogenic
Last evaluated:
Sep 5, 2017
Number of submission(s):
2
Condition(s):
  • Paragangliomas 1 [MedGen - OMIM]
  • Hereditary cancer-predisposing syndrome [MedGen]
See supporting ClinVar records

Allele(s) Help

NM_003002.3(SDHD):c.305A>T (p.His102Leu)

Allele ID:
21937
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.1
Genomic location:
  • Chr11: 112089002 (on Assembly GRCh38)
  • Chr11: 111959726 (on Assembly GRCh37)
Protein change:
H102L
HGVS:
  • NG_012337.3:g.7156A>T
  • NM_001276503.1:c.169+1029A>T
  • NM_003002.3:c.305A>T
  • NP_002993.1:p.His102Leu
  • NC_000011.10:g.112089002A>T (GRCh38)
  • NR_077060.1:n.389A>T
  • NC_000011.9:g.111959726A>T (GRCh37)
  • NG_012337.2:g.7156A>T
  • NM_003002.2:c.305A>T
  • O14521:p.His102Leu
Links:
NCBI 1000 Genomes Browser:
rs104894302
Molecular consequence:
  • NM_001276503.1:c.169+1029A>T: intron variant SO:0001627
  • NM_003002.3:c.305A>T: missense variant SO:0001583
  • NR_077060.1:n.389A>T: non-coding transcript variant SO:0001619
Suspect:
Paralog [dbSNP: 104894302]

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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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
Likely pathogenic
(Sep 5, 2017)
criteria provided, single submitter
clinical testing
  • Hereditary cancer-predisposing syndrome[MedGen]
germlineAmbry GeneticsSCV000664577.1
Pathogenic
(Feb 4, 2000)
no assertion criteria providedliterature onlygermlineOMIMSCV000027504.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot provided1germlinenot providednot provided
Ambry Geneticsnot provided1germlinenot providednot providedLines of evidence used in supp…Full description
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: May 3, 2018