NM_003002.3(SDHD):c.3G>C (p.Met1Ile) AND Paragangliomas 1

Clinical significance:Pathogenic (Last evaluated: Jul 1, 2001)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000007315.2

Allele description

NM_003002.3(SDHD):c.3G>C (p.Met1Ile)

Gene:
SDHD:succinate dehydrogenase complex subunit D [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.1
Genomic location:
Preferred name:
NM_003002.3(SDHD):c.3G>C (p.Met1Ile)
HGVS:
  • NC_000011.10:g.112086910G>C
  • NG_012337.3:g.5064G>C
  • NM_003002.3:c.3G>C
  • NP_002993.1:p.Met1Ile
  • NC_000011.9:g.111957634G>C
  • NG_012337.2:g.5064G>C
  • NM_003002.1:c.3G>C
  • NM_003002.2:c.3G>C
  • NR_077060.1:n.87G>C
Protein change:
M1I; MET1ILE
Links:
OMIM: 602690.0015; dbSNP: rs80338842
NCBI 1000 Genomes Browser:
rs80338842
Molecular consequence:
  • NM_003002.3:c.3G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_077060.1:n.87G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Paragangliomas 1 (PGL1)
Synonyms:
CAROTID BODY TUMORS; PARAGANGLIOMA, CAROTID BODY; PARAGANGLIOMAS, FAMILIAL NONCHROMAFFIN, 1
Identifiers:
MedGen: C1868633; Orphanet: 29072; OMIM: 168000
Age of onset:
Childhood
Prevalence:
1-9 / 1 000 000 29072

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000027512OMIMno assertion criteria providedPathogenic
(Jul 1, 2001)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.

Badenhop RF, Cherian S, Lord RS, Baysal BE, Taschner PE, Schofield PR.

Genes Chromosomes Cancer. 2001 Jul;31(3):255-63.

PubMed [citation]
PMID:
11391796

Details of each submission

From OMIM, SCV000027512.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a father and his 2 sons with paragangliomas (168000), Badenhop et al. (2001) found a G-to-C substitution in exon 1 of the SDHD gene, which resulted in change of the initiation methionine codon to isoleucine (M1I). As the next methionine codon in the SDHD gene was not until met91, the met1-to-ile missense mutation was expected to produce a nontranslated transcript.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 1, 2017