NM_003000.2(SDHB):c.541-2A>G AND Hereditary cancer-predisposing syndrome

Clinical significance:Pathogenic (Last evaluated: Apr 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000162804.3

Allele description [Variation Report for NM_003000.2(SDHB):c.541-2A>G]

NM_003000.2(SDHB):c.541-2A>G

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_003000.2(SDHB):c.541-2A>G
HGVS:
  • NC_000001.11:g.17024076T>C
  • NG_012340.1:g.35095A>G
  • NM_003000.2:c.541-2A>G
  • LRG_316t1:c.541-2A>G
  • LRG_316:g.35095A>G
  • NC_000001.10:g.17350571T>C
Links:
dbSNP: rs786201161
NCBI 1000 Genomes Browser:
rs786201161
Molecular consequence:
  • NM_003000.2:c.541-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000213285Ambry Geneticscriteria provided, single submitter
Pathogenic
(Apr 28, 2019)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

SDHB-Associated Paraganglioma in a Pediatric Patient and Literature Review on Hereditary Pheochromocytoma-Paraganglioma Syndromes.

Choat H, Derrevere K, Knight L, Brown W, Mack EH.

Case Rep Endocrinol. 2014;2014:502734. doi: 10.1155/2014/502734. Epub 2014 Sep 15.

PubMed [citation]
PMID:
25298897
PMCID:
PMC4179940

Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review.

Casey RT, Warren AY, Martin JE, Challis BG, Rattenberry E, Whitworth J, Andrews KA, Roberts T, Clark GR, West H, Smith PS, Docquier FM, Rodger F, Murray V, Simpson HL, Wallis Y, Giger O, Tran M, Tomkins S, Stewart GD, Park SM, Woodward ER, et al.

J Clin Endocrinol Metab. 2017 Nov 1;102(11):4013-4022. doi: 10.1210/jc.2017-00562. Review.

PubMed [citation]
PMID:
28973655
PMCID:
PMC5673270
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV000213285.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)

Description

The c.541-2A>G intronic pathogenic mutation results from an A to G substitution two nucleotides upstream from coding exon 6 in the SDHB gene. This mutation was detected in several individuals with personal and/or family history of pheochromocytoma, paraganglioma, and renal cell carcinoma (Timmers HJ et al. J Clin Endocrinol Metab. 2007;92(3):779-86. Ricketts CJ et al. J Urol. 2012 Dec;188(6):2063-71. Choat H, et al. Case Rep Endocrinol 2014 ; 2014:502734; Casey RT et al. J. Clin. Endocrinol. Metab., 2017 11;102:4013-4022; Huang Y et al. Endocr Connect, 2018 Dec;7:1217-1225). In addition to the clinical data presented in the literature, alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2021

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