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NM_003000.3(SDHB):c.170A>G (p.His57Arg) AND Hereditary pheochromocytoma-paraganglioma

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 15, 2018
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:
RCV000301812.7

Allele description [Variation Report for NM_003000.3(SDHB):c.170A>G (p.His57Arg)]

NM_003000.3(SDHB):c.170A>G (p.His57Arg)

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.170A>G (p.His57Arg)
HGVS:
  • NC_000001.11:g.17044791T>C
  • NG_012340.1:g.14380A>G
  • NM_003000.3:c.170A>GMANE SELECT
  • NP_002991.2:p.His57Arg
  • NP_002991.2:p.His57Arg
  • LRG_316t1:c.170A>G
  • LRG_316:g.14380A>G
  • LRG_316p1:p.His57Arg
  • NC_000001.10:g.17371286T>C
  • NM_003000.2:c.170A>G
  • p.H57R
Protein change:
H57R
Links:
dbSNP: rs35962811
NCBI 1000 Genomes Browser:
rs35962811
Molecular consequence:
  • NM_003000.3:c.170A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary pheochromocytoma-paraganglioma
Synonyms:
Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary Paragangliomas and Pheochromocytomas
Identifiers:
MONDO: MONDO:0017366; MedGen: C1708353

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000351427Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Likely benign
(Oct 15, 2018) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53.

Ni Y, He X, Chen J, Moline J, Mester J, Orloff MS, Ringel MD, Eng C.

Hum Mol Genet. 2012 Jan 15;21(2):300-10. doi: 10.1093/hmg/ddr459. Epub 2011 Oct 6.

PubMed [citation]
PMID:
21979946
PMCID:
PMC3276278

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000351427.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

Last Updated: Sep 29, 2024