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NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 8, 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:
RCV004586651.1

Allele description [Variation Report for NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly)]

NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly)

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.1919A>G (p.Glu640Gly)
HGVS:
  • NC_000005.10:g.256344A>G
  • NG_012339.1:g.43104A>G
  • NM_001294332.2:c.1775A>G
  • NM_001330758.2:c.1676A>G
  • NM_004168.4:c.1919A>GMANE SELECT
  • NP_001281261.1:p.Glu592Gly
  • NP_001317687.1:p.Glu559Gly
  • NP_004159.2:p.Glu640Gly
  • LRG_315t1:c.1919A>G
  • LRG_315:g.43104A>G
  • LRG_315p1:p.Glu640Gly
  • NC_000005.9:g.256459A>G
  • NM_004168.2:c.1919A>G
  • NM_004168.3:c.1919A>G
Protein change:
E559G
Links:
dbSNP: rs372480044
NCBI 1000 Genomes Browser:
rs372480044
Molecular consequence:
  • NM_001294332.2:c.1775A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330758.2:c.1676A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004168.4:c.1919A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005076962Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Apr 8, 2024) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Familiar Papillary Thyroid Carcinoma in a Large Brazilian Family Is Not Associated with Succinate Dehydrogenase Defects.

Accordi ED, Xekouki P, Azevedo B, de Alexandre RB, Frasson C, Gantzel SM, Papadakis GZ, Angelousi A, Stratakis CA, Sotomaior VS, Faucz FR.

Eur Thyroid J. 2016 Jul;5(2):94-9. doi: 10.1159/000444522. Epub 2016 Mar 10.

PubMed [citation]
PMID:
27493882
PMCID:
PMC4949364

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005076962.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Variant summary: SDHA c.1919A>G (p.Glu640Gly) results in a non-conservative amino acid change located in the Fumarate reductase/succinate dehydrogenase flavoprotein-like, C-terminal domain (IPR015939) of the encoded protein sequence. Three of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00011 in 251168 control chromosomes in the gnomAD database, including 1 homozygote. c.1919A>G has been reported in the literature in a family affected with Familiar Papillary Thyroid Carcinoma but did not segregate with disease (Accordi_2016). These report(s) do not provide unequivocal conclusions about association of the variant with Neurodegeneration With Ataxia And Late-Onset Optic Atrophy. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 27493882). ClinVar contains an entry for this variant (Variation ID: 252908). Based on the evidence outlined above, the variant was classified as VUS-possibly benign.

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

Last Updated: Sep 29, 2024