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NM_004168.4(SDHA):c.1552-173_1585dup AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 11, 2017
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:
RCV001325808.3

Allele description [Variation Report for NM_004168.4(SDHA):c.1552-173_1585dup]

NM_004168.4(SDHA):c.1552-173_1585dup

Gene:
SDHA:succinate dehydrogenase complex flavoprotein subunit A [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
5p15.33
Genomic location:
Preferred name:
NM_004168.4(SDHA):c.1552-173_1585dup
HGVS:
  • NC_000005.10:g.250819_251025dup
  • NG_012339.1:g.37579_37785dup
  • NM_001294332.2:c.1408-173_1441dup
  • NM_001330758.2:c.1552-3574_1552-3368dup
  • NM_004168.4:c.1552-173_1585dupMANE SELECT
  • LRG_315t1:c.1552-173_1585dup
  • LRG_315:g.37579_37785dup
  • NC_000005.9:g.250934_251140dup
Links:
dbSNP: rs1736773597
NCBI 1000 Genomes Browser:
rs1736773597
Molecular consequence:
  • NM_001330758.2:c.1552-3574_1552-3368dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001294332.2:c.1408-173_1441dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_004168.4:c.1552-173_1585dup - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Mitochondrial complex II deficiency, nuclear type 1
Synonyms:
Mitochondrial complex II deficiency; Complex 2 mitochondrial respiratory chain deficiency; Succinate CoQ reductase deficiency
Identifiers:
MONDO: MONDO:0100294; MedGen: C5700310; Orphanet: 3208; OMIM: 252011
Name:
Paragangliomas 5 (PPGL5)
Synonyms:
PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 5
Identifiers:
MONDO: MONDO:0013602; MedGen: C3279992; Orphanet: 29072; OMIM: 614165

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001516814Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(May 11, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001516814.2

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

Description

This variant is a gross duplication of the genomic region spanning the intron 11-exon 12 boundary of the SDHA gene. The duplicated copy of this region appears to be inserted in intron 11. This variant has not been reported in the literature in individuals with an SDHA-related disease. In summary, this is a novel duplication with uncertain impact on SDHA protein function. It has been classified as a Variant of Uncertain Significance.

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

Last Updated: Sep 29, 2024