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NM_003002.4(SDHD):c.94_95del (p.Ala33fs) AND Paragangliomas 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 14, 2001
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000007317.15

Allele description [Variation Report for NM_003002.4(SDHD):c.94_95del (p.Ala33fs)]

NM_003002.4(SDHD):c.94_95del (p.Ala33fs)

Gene:
SDHD:succinate dehydrogenase complex subunit D [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
11q23.1
Genomic location:
Preferred name:
NM_003002.4(SDHD):c.94_95del (p.Ala33fs)
HGVS:
  • NC_000011.10:g.112087896TC[1]
  • NG_012337.3:g.6050TC[1]
  • NG_033145.1:g.3900GA[1]
  • NM_001276503.2:c.94_95del
  • NM_001276504.2:c.52+939_52+940del
  • NM_001276506.2:c.94_95del
  • NM_003002.4:c.94_95delMANE SELECT
  • NP_001263432.1:p.Ala33fs
  • NP_001263435.1:p.Ala33fs
  • NP_002993.1:p.Ala33fs
  • LRG_9t1:c.94_95del
  • LRG_9:g.6050TC[1]
  • LRG_9p1:p.Ala33fs
  • NC_000011.9:g.111958620TC[1]
  • NC_000011.9:g.111958620_111958621del
  • NG_012337.2:g.6052_6053del
  • NM_003002.2:c.94_95delTC
  • NM_003002.3:c.94_95del
  • NM_003002.3:c.94_95delTC
  • NR_077060.2:n.127TC[1]
Protein change:
A33fs
Links:
OMIM: 602690.0017; dbSNP: rs397514034
NCBI 1000 Genomes Browser:
rs397514034
Molecular consequence:
  • NM_001276503.2:c.94_95del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001276506.2:c.94_95del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003002.4:c.94_95del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001276504.2:c.52+939_52+940del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_077060.2:n.127TC[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Paragangliomas 1
Synonyms:
Paragangliomata; Glomus tumors familial 1; Paraganglioma - glomus jugulare; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008192; MedGen: C3494181; Orphanet: 29072; OMIM: 168000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000027514OMIM
no assertion criteria provided
Pathogenic
(Apr 14, 2001) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Germline SDHD mutation in familial phaeochromocytoma.

Astuti D, Douglas F, Lennard TW, Aligianis IA, Woodward ER, Evans DG, Eng C, Latif F, Maher ER.

Lancet. 2001 Apr 14;357(9263):1181-2.

PubMed [citation]
PMID:
11323050

Details of each submission

From OMIM, SCV000027514.5

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

Description

In a 2-generation family with paragangliomas (PGL1; 168000) manifesting as pheochromocytomas, Astuti et al. (2001) identified a 2-bp deletion in exon 2 of the SDHD gene (6799-6800), resulting in a truncated protein of 66 amino acids (compared with 159 in the wildtype protein). The father, who carried the mutation and was unaffected, had 3 affected children by 1 wife and 1 affected child by the second wife. Of the 4 affected children, 2 had unilateral adrenal pheochromocytomas, 1 had bilateral adrenal pheochromocytomas, and 1 had a paraaortic pheochromocytoma. The paternal grandmother of the children, a presumed carrier, developed 2 carotid body tumors in her sixth decade. Astuti et al. (2001) suggested that germline SDHD mutation analysis should be done in individuals with familial, multiple, or early-onset pheochromocytoma, even if a personal or family history of head and neck paraganglioma is absent.

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

Last Updated: Apr 6, 2024