NM_003000.2(SDHB):c.317A>G (p.Asn106Ser) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jan 23, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001551990.2

Allele description [Variation Report for NM_003000.2(SDHB):c.317A>G (p.Asn106Ser)]

NM_003000.2(SDHB):c.317A>G (p.Asn106Ser)

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.317A>G (p.Asn106Ser)
HGVS:
  • NC_000001.11:g.17028706T>C
  • NG_012340.1:g.30465A>G
  • NM_003000.2:c.317A>G
  • NP_002991.2:p.Asn106Ser
  • LRG_316t1:c.317A>G
  • LRG_316:g.30465A>G
  • LRG_316p1:p.Asn106Ser
  • NC_000001.10:g.17355201T>C
Protein change:
N106S
Links:
dbSNP: rs934514080
NCBI 1000 Genomes Browser:
rs934514080
Molecular consequence:
  • NM_003000.2:c.317A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001772601GeneDxcriteria provided, single submitter
Uncertain significance
(Jan 23, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001772601.1

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

Description

Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Observed in an individual with breast cancer (Dutil 2019); This variant is associated with the following publications: (PMID: 31780696)

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

Last Updated: Oct 8, 2021

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