NM_003002.4(SDHD):c.191_192del (p.Leu64fs) AND Paragangliomas 1 with sensorineural hearing loss

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:
RCV000007313.6

Allele description [Variation Report for NM_003002.4(SDHD):c.191_192del (p.Leu64fs)]

NM_003002.4(SDHD):c.191_192del (p.Leu64fs)

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.191_192del (p.Leu64fs)
HGVS:
  • NC_000011.10:g.112088884TC[2]
  • NG_012337.3:g.7038TC[2]
  • NG_033145.1:g.2910GA[2]
  • NM_001276503.2:c.169+911TC[2]
  • NM_001276504.2:c.74_75del
  • NM_001276506.2:c.191_192del
  • NM_003002.4:c.191_192delMANE SELECT
  • NP_001263433.1:p.Leu25fs
  • NP_001263435.1:p.Leu64fs
  • NP_002993.1:p.Leu64fs
  • LRG_9t1:c.191_192del
  • LRG_9:g.7038TC[2]
  • LRG_9p1:p.Leu64fs
  • NC_000011.9:g.111959608TC[2]
  • NG_012337.2:g.7042_7043del
  • NM_003002.2:c.191_192delTC
  • NM_003002.3:c.191_192delTC
  • NR_077060.2:n.222TC[2]
Protein change:
L25fs
Links:
OMIM: 602690.0013; dbSNP: rs387906358
NCBI 1000 Genomes Browser:
rs387906358
Molecular consequence:
  • NM_001276504.2:c.74_75del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001276506.2:c.191_192del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003002.4:c.191_192del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001276503.2:c.169+911TC[2] - intron variant - [Sequence Ontology: SO:0001627]
  • NR_077060.2:n.222TC[2] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Paragangliomas 1 with sensorineural hearing loss
Identifiers:
MedGen: C3276074

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000027510OMIMno 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, SCV000027510.4

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

Description

In 1 of 2 unrelated families with familial carotid body paraganglioma associated with sensorineural hearing loss (see 168000) studied by Badenhop et al. (2001), they found a 2-bp deletion in exon 3 of the SDHD gene, creating a premature stop codon at position 67. They had information on 4 generations. One female with both paraganglioma and deafness/tinnitus had 5 children unaffected on both scores; another doubly affected female had 2 unaffected children and 1 child with deafness/tinnitus only. The latter finding was consistent with the fact that only affected males transmitted paraganglioma to their children and that monoallelic expression of the mutant (paternal) allele was observed, as expected for imprinting.

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

Last Updated: Oct 8, 2021

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