NM_003002.4(SDHD):c.3G>C (p.Met1Ile) 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:: RCV000007315.17

Allele description [Variation Report for NM_003002.4(SDHD):c.3G>C (p.Met1Ile)]

NM_003002.4(SDHD):c.3G>C (p.Met1Ile)

Genes:

LOC126861339:BRD4-independent group 4 enhancer GRCh37_chr11:111957035-111958234 [Gene]
SDHD:succinate dehydrogenase complex subunit D [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.1

Genomic location:

Preferred name:

NM_003002.4(SDHD):c.3G>C (p.Met1Ile)

Other names:

p.Met1?

HGVS:

NC_000011.10:g.112086910G>C
NG_012337.3:g.5064G>C
NG_033145.1:g.4889C>G
NM_001276503.2:c.3G>C
NM_001276504.2:c.3G>C
NM_001276506.2:c.3G>C
NM_003002.4:c.3G>CMANE SELECT
NP_001263432.1:p.Met1Ile
NP_001263433.1:p.Met1Ile
NP_001263435.1:p.Met1Ile
NP_002993.1:p.Met1Ile
LRG_9t1:c.3G>C
LRG_9:g.5064G>C
LRG_9p1:p.Met1Ile
NC_000011.9:g.111957634G>C
NM_003002.1:c.3G>C
NM_003002.2:c.3G>C
NM_003002.3:c.3G>C
NR_077060.2:n.38G>C

Protein change:

M1I; MET1ILE

Links:

OMIM: 602690.0015; dbSNP: rs80338842

NCBI 1000 Genomes Browser:

rs80338842

Molecular consequence:

NM_001276503.2:c.3G>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001276504.2:c.3G>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001276506.2:c.3G>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_003002.4:c.3G>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001276503.2:c.3G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001276504.2:c.3G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001276506.2:c.3G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003002.4:c.3G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_077060.2:n.38G>C - 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
SCV000027512	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

SCV000027512

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, SCV000027512.7

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

Description

In a father and his 2 sons with paragangliomas (PPGL1; 168000), Badenhop et al. (2001) found a heterozygous 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.

#	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: Nov 24, 2024

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