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NM_004168.4(SDHA):c.1615dup (p.Ile539fs) AND Paragangliomas 5

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 7, 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:
RCV003456080.1

Allele description [Variation Report for NM_004168.4(SDHA):c.1615dup (p.Ile539fs)]

NM_004168.4(SDHA):c.1615dup (p.Ile539fs)

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.1615dup (p.Ile539fs)
HGVS:
  • NC_000005.10:g.251055dup
  • NG_012339.1:g.37815dup
  • NM_001294332.2:c.1471dup
  • NM_001330758.2:c.1552-3338dup
  • NM_004168.4:c.1615dupMANE SELECT
  • NP_001281261.1:p.Ile491fs
  • NP_004159.2:p.Ile539fs
  • LRG_315t1:c.1615dup
  • LRG_315:g.37815dup
  • LRG_315p1:p.Ile539fs
  • NC_000005.9:g.251166_251167insA
  • NC_000005.9:g.251170dup
  • NM_004168.2:c.1615dupA
Protein change:
I491fs
Links:
dbSNP: rs1554001843
NCBI 1000 Genomes Browser:
rs1554001843
Molecular consequence:
  • NM_001294332.2:c.1471dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004168.4:c.1615dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001330758.2:c.1552-3338dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004189811Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Jul 7, 2023) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV004189811.1

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

Description

This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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

Last Updated: Sep 29, 2024