NM_003000.2(SDHB):c.736A>G (p.Ile246Val) AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: Aug 17, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001026330.1

Allele description [Variation Report for NM_003000.2(SDHB):c.736A>G (p.Ile246Val)]

NM_003000.2(SDHB):c.736A>G (p.Ile246Val)

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.736A>G (p.Ile246Val)
HGVS:
  • NC_000001.11:g.17022637T>C
  • NG_012340.1:g.36534A>G
  • NM_003000.2:c.736A>G
  • NP_002991.2:p.Ile246Val
  • LRG_316t1:c.736A>G
  • LRG_316:g.36534A>G
  • LRG_316p1:p.Ile246Val
  • NC_000001.10:g.17349132T>C
Protein change:
I246V
Links:
dbSNP: rs146800605
NCBI 1000 Genomes Browser:
rs146800605
Molecular consequence:
  • NM_003000.2:c.736A>G - missense variant - [Sequence Ontology: SO:0001583]
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
SCV001188691Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Aug 17, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV001188691.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.I246V variant (also known as c.736A>G), located in coding exon 7 of the SDHB gene, results from an A to G substitution at nucleotide position 736. The isoleucine at codon 246 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 8, 2021

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