NM_003000.3(SDHB):c.137G>T (p.Arg46Leu) AND Paragangliomas 4

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 24, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV003449160.1

Allele description [Variation Report for NM_003000.3(SDHB):c.137G>T (p.Arg46Leu)]

NM_003000.3(SDHB):c.137G>T (p.Arg46Leu)

Gene:

SDHB:succinate dehydrogenase complex iron sulfur subunit B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.13

Genomic location:

Preferred name:

NM_003000.3(SDHB):c.137G>T (p.Arg46Leu)

HGVS:

NC_000001.11:g.17044824C>A
NG_012340.1:g.14347G>T
NM_003000.3:c.137G>TMANE SELECT
NP_002991.2:p.Arg46Leu
NP_002991.2:p.Arg46Leu
LRG_316t1:c.137G>T
LRG_316:g.14347G>T
LRG_316p1:p.Arg46Leu
NC_000001.10:g.17371319C>A
NM_003000.2:c.137G>T

Protein change:

R46L

Links:

dbSNP: rs772551056

NCBI 1000 Genomes Browser:

rs772551056

Molecular consequence:

NM_003000.3:c.137G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Paragangliomas 4 (PPGL4)
Synonyms:: CAROTID BODY TUMORS AND MULTIPLE EXTRAADRENAL PHEOCHROMOCYTOMAS; Pheochromocytoma, extraadrenal and cervical paraganglioma; Paragangliomas, hereditary extraadrenal; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007273; MedGen: C1861848; Orphanet: 29072; OMIM: 115310

Recent activity

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dhp1 5'-3' exoribonuclease Dhp1 [Schizosaccharomyces pombe]
dhp1 5'-3' exoribonuclease Dhp1 [Schizosaccharomyces pombe]
Gene ID:2542674

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004185978	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Likely pathogenic (Oct 24, 2023)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 34906457, 37529773, 31492822, 28374168 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004185978

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Likely pathogenic
(Oct 24, 2023)

unknown

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.

Garrett A, Loveday C, King L, Butler S, Robinson R, Horton C, Yussuf A, Choi S, Torr B, Durkie M, Burghel GJ, Drummond J, Berry I, Wallace A, Callaway A, Eccles D, Tischkowitz M, Tatton-Brown K, Snape K, McVeigh T, Izatt L, Woodward ER, et al.

Genet Med. 2022 Jan;24(1):41-50. doi: 10.1016/j.gim.2021.08.004. Epub 2021 Nov 30.

PubMed [citation]

PMID:: 34906457
PMCID:: PMC8759765

Germline genetic variants in pheochromocytoma/paraganglioma: single-center experience.

Lima JV Jr, Scalissi NM, de Oliveira KC, Lindsey SC, Olivati C, Ferreira EN, Kater CE.

Endocr Oncol. 2023 Jan 1;3(1):e220091. doi: 10.1530/EO-22-0091.

PubMed [citation]

PMID:: 37529773
PMCID:: PMC10388674

See all PubMed Citations (4)

Details of each submission

From Myriad Genetics, Inc., SCV004185978.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This variant is considered likely pathogenic. This variant has been reported in multiple individuals with clinical features of gene-specific disease [PMID: 34906457, 37529773, 31492822, 28374168]. This variant is expected to disrupt protein structure [Myriad internal data].

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

Last Updated: Sep 29, 2024

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