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NM_004168.4(SDHA):c.841A>G (p.Thr281Ala) AND Pheochromocytoma/paraganglioma syndrome 5

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Apr 20, 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:
RCV000662906.3

Allele description [Variation Report for NM_004168.4(SDHA):c.841A>G (p.Thr281Ala)]

NM_004168.4(SDHA):c.841A>G (p.Thr281Ala)

Gene:
SDHA:succinate dehydrogenase complex flavoprotein subunit A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p15.33
Genomic location:
Preferred name:
NM_004168.4(SDHA):c.841A>G (p.Thr281Ala)
HGVS:
  • NC_000005.10:g.230946A>G
  • NG_012339.1:g.17706A>G
  • NM_001294332.2:c.697A>G
  • NM_001330758.2:c.841A>G
  • NM_004168.4:c.841A>GMANE SELECT
  • NP_001281261.1:p.Thr233Ala
  • NP_001317687.1:p.Thr281Ala
  • NP_004159.2:p.Thr281Ala
  • LRG_315t1:c.841A>G
  • LRG_315:g.17706A>G
  • LRG_315p1:p.Thr281Ala
  • NC_000005.9:g.231061A>G
  • NM_004168.2:c.841A>G
  • NM_004168.3:c.841A>G
Protein change:
T233A
Links:
dbSNP: rs772325115
NCBI 1000 Genomes Browser:
rs772325115
Molecular consequence:
  • NM_001294332.2:c.697A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330758.2:c.841A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004168.4:c.841A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pheochromocytoma/paraganglioma syndrome 5
Synonyms:
Paragangliomas 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
SCV000785828Counsyl
no assertion criteria provided
Uncertain significance
(Dec 13, 2017) 		unknownclinical testing

SCV004018578Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Uncertain significance
(Apr 20, 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 Counsyl, SCV000785828.3

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

Description

This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.

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

From Myriad Genetics, Inc., SCV004018578.1

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

Description

This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.

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

Last Updated: Aug 16, 2025