NM_003002.4(SDHD):c.278_280del (p.Tyr93del) AND Paragangliomas 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 1, 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:: RCV000007314.8

Allele description [Variation Report for NM_003002.4(SDHD):c.278_280del (p.Tyr93del)]

NM_003002.4(SDHD):c.278_280del (p.Tyr93del)

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.278_280del (p.Tyr93del)

Other names:

Y93delY

HGVS:

NC_000011.10:g.112088975_112088977del
NG_012337.3:g.7129_7131del
NG_033145.1:g.2823_2825del
NM_001276503.2:c.169+1002_169+1004del
NM_001276504.2:c.161_163del
NM_001276506.2:c.278_280del
NM_003002.4:c.278_280delMANE SELECT
NP_001263433.1:p.Tyr54del
NP_001263435.1:p.Tyr93del
NP_002993.1:p.Tyr93del
LRG_9t1:c.278_280del
LRG_9:g.7129_7131del
LRG_9p1:p.Tyr93del
NC_000011.9:g.111959699_111959701del
NM_003002.2:c.278_280delATT
NR_077060.2:n.313_315del

Protein change:

Y54del; TYR93DEL

Links:

OMIM: 602690.0014; dbSNP: rs121908983

NCBI 1000 Genomes Browser:

rs121908983

Molecular consequence:

NM_001276504.2:c.161_163del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001276506.2:c.278_280del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_003002.4:c.278_280del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001276503.2:c.169+1002_169+1004del - intron variant - [Sequence Ontology: SO:0001627]
NR_077060.2:n.313_315del - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000027511	OMIM	no assertion criteria provided	Pathogenic (Jul 1, 2001)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000027511

OMIM

no assertion criteria provided

Pathogenic
(Jul 1, 2001)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature 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, SCV000027511.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 5 affected members in 2 generations of a family with paragangliomas (PPGL1; 168000), Badenhop et al. (2001) identified a heterozygous 3-bp deletion in exon 3 of the SDHD gene, resulting in the deletion of tyr93. An affected male transmitted paragangliomas to 2 of his 3 children; an affected female had 2 unaffected children, consistent with genomic imprinting.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

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