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NM_004168.4(SDHA):c.1423T>C (p.Cys475Arg) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 18, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002392698.3

Allele description [Variation Report for NM_004168.4(SDHA):c.1423T>C (p.Cys475Arg)]

NM_004168.4(SDHA):c.1423T>C (p.Cys475Arg)

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_004168.4(SDHA):c.1423T>C (p.Cys475Arg)
HGVS:
  • NC_000005.10:g.236590T>C
  • NG_012339.1:g.23350T>C
  • NM_001294332.2:c.1279T>C
  • NM_001330758.2:c.1423T>C
  • NM_004168.4:c.1423T>CMANE SELECT
  • NP_001281261.1:p.Cys427Arg
  • NP_001317687.1:p.Cys475Arg
  • NP_004159.2:p.Cys475Arg
  • LRG_315t1:c.1423T>C
  • LRG_315:g.23350T>C
  • LRG_315p1:p.Cys475Arg
  • NC_000005.9:g.236705T>C
  • NM_004168.2:c.1423T>C
  • NM_004168.3:c.1423T>C
Protein change:
C427R
Links:
dbSNP: rs781747137
NCBI 1000 Genomes Browser:
rs781747137
Molecular consequence:
  • NM_001294332.2:c.1279T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330758.2:c.1423T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004168.4:c.1423T>C - 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
SCV002702704Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Mar 18, 2024)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002702704.3

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

Description

The p.C475R variant (also known as c.1423T>C), located in coding exon 10 of the SDHA gene, results from a T to C substitution at nucleotide position 1423. The cysteine at codon 475 is replaced by arginine, an amino acid with highly dissimilar properties. This amino acid position is not well 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
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024