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NM_003849.4(SUCLG1):c.40A>G (p.Met14Val) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 24, 2019
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:
RCV000186203.3

Allele description [Variation Report for NM_003849.4(SUCLG1):c.40A>G (p.Met14Val)]

NM_003849.4(SUCLG1):c.40A>G (p.Met14Val)

Gene:
SUCLG1:succinate-CoA ligase GDP/ADP-forming subunit alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p11.2
Genomic location:
Preferred name:
NM_003849.4(SUCLG1):c.40A>G (p.Met14Val)
Other names:
p.M14V:ATG>GTG
HGVS:
  • NC_000002.12:g.84459230T>C
  • NG_016755.1:g.5233A>G
  • NG_050957.1:g.4691T>C
  • NM_003849.4:c.40A>GMANE SELECT
  • NP_003840.2:p.Met14Val
  • NC_000002.11:g.84686354T>C
  • NM_003849.3:c.40A>G
Protein change:
M14V
Links:
dbSNP: rs796052053
NCBI 1000 Genomes Browser:
rs796052053
Molecular consequence:
  • NM_003849.4:c.40A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000239229GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Apr 24, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000239229.9

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

Description

Has not been previously published as pathogenic or benign to our knowledge; 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

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

Last Updated: May 1, 2024