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NM_003000.3(SDHB):c.403G>A (p.Val135Met) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Aug 28, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000163306.10

Allele description [Variation Report for NM_003000.3(SDHB):c.403G>A (p.Val135Met)]

NM_003000.3(SDHB):c.403G>A (p.Val135Met)

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.403G>A (p.Val135Met)
HGVS:
  • NC_000001.11:g.17028620C>T
  • NG_012340.1:g.30551G>A
  • NM_003000.3:c.403G>AMANE SELECT
  • NP_002991.2:p.Val135Met
  • NP_002991.2:p.Val135Met
  • LRG_316t1:c.403G>A
  • LRG_316:g.30551G>A
  • LRG_316p1:p.Val135Met
  • NC_000001.10:g.17355115C>T
  • NM_003000.2:c.403G>A
  • p.V135M
Protein change:
V135M
Links:
dbSNP: rs201585157
NCBI 1000 Genomes Browser:
rs201585157
Molecular consequence:
  • NM_003000.3:c.403G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000213834Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Aug 28, 2023)
germlineclinical testing

Citation Link,

SCV002527072Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)
Uncertain significance
(Nov 9, 2021)
germlinecuration

Citation Link

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000213834.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.V135M variant (also known as c.403G>A), located in coding exon 4 of the SDHB gene, results from a G to A substitution at nucleotide position 403. The valine at codon 135 is replaced by methionine, an amino acid with highly similar properties. This alteration was identified in 1 of 572 individuals who underwent exome sequencing due to a phenotype unrelated to a history of cancer (atherosclerosis) (Johnston JJ et al. Am. J. Hum. Genet. 2012 Jul;91:97-108). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

From Sema4, Sema4, SCV002527072.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2024