NM_004168.3(SDHA):c.1273G>T (p.Val425Leu) AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: May 6, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000573766.2

Allele description [Variation Report for NM_004168.3(SDHA):c.1273G>T (p.Val425Leu)]

NM_004168.3(SDHA):c.1273G>T (p.Val425Leu)

Gene:
SDHA:succinate dehydrogenase complex flavoprotein subunit A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p15.33
Genomic location:
Preferred name:
NM_004168.3(SDHA):c.1273G>T (p.Val425Leu)
HGVS:
  • NC_000005.10:g.236440G>T
  • NG_012339.1:g.23200G>T
  • NM_004168.3:c.1273G>T
  • NP_004159.2:p.Val425Leu
  • NC_000005.9:g.236555G>T
  • NM_004168.2:c.1273G>T
Protein change:
V425L
Links:
dbSNP: rs201822097
NCBI 1000 Genomes Browser:
rs201822097
Molecular consequence:
  • NM_004168.3:c.1273G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:
MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000664487Ambry Geneticscriteria provided, single submitter
Uncertain significance
(May 6, 2016)
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, SCV000664487.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Lines of evidence used in support of classification: Insufficient or conflicting evidence

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

Last Updated: Mar 30, 2019

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