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NM_003850.3(SUCLA2):c.236C>T (p.Ser79Leu) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 1, 2023
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:
RCV003278685.2

Allele description [Variation Report for NM_003850.3(SUCLA2):c.236C>T (p.Ser79Leu)]

NM_003850.3(SUCLA2):c.236C>T (p.Ser79Leu)

Gene:
SUCLA2:succinate-CoA ligase ADP-forming subunit beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q14.2
Genomic location:
Preferred name:
NM_003850.3(SUCLA2):c.236C>T (p.Ser79Leu)
Other names:
p.S79L:TCA>TTA
HGVS:
  • NC_000013.11:g.47996878G>A
  • NG_008241.1:g.9450C>T
  • NM_003850.3:c.236C>TMANE SELECT
  • NP_003841.1:p.Ser79Leu
  • NP_003841.1:p.Ser79Leu
  • NC_000013.10:g.48571013G>A
  • NM_003850.2:c.236C>T
Protein change:
S79L
Links:
dbSNP: rs142289138
NCBI 1000 Genomes Browser:
rs142289138
Molecular consequence:
  • NM_003850.3:c.236C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003973310Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(May 1, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003973310.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 16, 2025