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NM_003850.3(SUCLA2):c.348_355dup (p.Val119fs) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 21, 2021
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:
RCV001565395.3

Allele description [Variation Report for NM_003850.3(SUCLA2):c.348_355dup (p.Val119fs)]

NM_003850.3(SUCLA2):c.348_355dup (p.Val119fs)

Gene:
SUCLA2:succinate-CoA ligase ADP-forming subunit beta [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
13q14.2
Genomic location:
Preferred name:
NM_003850.3(SUCLA2):c.348_355dup (p.Val119fs)
HGVS:
  • NC_000013.11:g.47988898_47988905dup
  • NG_008241.1:g.17423_17430dup
  • NM_003850.3:c.348_355dupMANE SELECT
  • NP_003841.1:p.Val119fs
  • NC_000013.10:g.48563032_48563033insCTCCTCCT
  • NC_000013.10:g.48563033_48563040dup
  • NM_003850.2:c.348_355dupAGGAGGAG
Protein change:
V119fs
Links:
dbSNP: rs1425790333
NCBI 1000 Genomes Browser:
rs1425790333
Molecular consequence:
  • NM_003850.3:c.348_355dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001788734GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(May 21, 2021) 		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, SCV001788734.1

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Sep 29, 2024