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NM_003002.4(SDHD):c.463del (p.Met155fs) AND Paragangliomas 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2004
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:
RCV000007319.6

Allele description [Variation Report for NM_003002.4(SDHD):c.463del (p.Met155fs)]

NM_003002.4(SDHD):c.463del (p.Met155fs)

Gene:
SDHD:succinate dehydrogenase complex subunit D [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q23.1
Genomic location:
Preferred name:
NM_003002.4(SDHD):c.463del (p.Met155fs)
HGVS:
  • NC_000011.10:g.112094953del
  • NG_012337.3:g.13107del
  • NM_001276503.2:c.*60del
  • NM_001276504.2:c.346del
  • NM_001276506.2:c.*161del
  • NM_003002.4:c.463delMANE SELECT
  • NP_001263433.1:p.Met116fs
  • NP_002993.1:p.Met155fs
  • LRG_9t1:c.463del
  • LRG_9:g.13107del
  • LRG_9p1:p.Met155fs
  • NC_000011.9:g.111965677del
  • NG_012337.2:g.13107del
  • NM_003002.2:c.463delA
  • NR_077060.2:n.552del
Protein change:
M116fs
Links:
OMIM: 602690.0020; dbSNP: rs587776647
NCBI 1000 Genomes Browser:
rs587776647
Molecular consequence:
  • NM_001276503.2:c.*60del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276506.2:c.*161del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276504.2:c.346del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003002.4:c.463del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_077060.2:n.552del - 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
SCV000027517OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 2004) 		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

SDHD mutation analysis in seven German patients with sporadic carotid body paraganglioma: one novel mutation, no Dutch founder mutation and further evidence that G12S is a polymorphism.

Leube B, Huber R, Goecke TO, Sandmann W, Royer-Pokora B.

Clin Genet. 2004 Jan;65(1):61-3. No abstract available.

PubMed [citation]
PMID:
15032977

Details of each submission

From OMIM, SCV000027517.4

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

Description

In a patient of German descent with sporadic bilateral carotid body paragangliomata (PGL1; 168000), Leube et al. (2004) identified a frameshift mutation, 463delA, in exon 4 of the SDHD gene. The frameshift resulted in an aberrant amino acid sequence from codon 155 onward to a premature stop at codon 167.

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

Last Updated: Dec 24, 2023