NM_004168.4(SDHA):c.994C>T (p.Pro332Ser) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Feb 16, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV002263789.17

Allele description [Variation Report for NM_004168.4(SDHA):c.994C>T (p.Pro332Ser)]

NM_004168.4(SDHA):c.994C>T (p.Pro332Ser)

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.994C>T (p.Pro332Ser)

Other names:

p.Pro332Ser

HGVS:

NC_000005.10:g.233575C>T
NG_012339.1:g.20335C>T
NM_001294332.2:c.850C>T
NM_001330758.2:c.994C>T
NM_004168.4:c.994C>TMANE SELECT
NP_001281261.1:p.Pro284Ser
NP_001317687.1:p.Pro332Ser
NP_004159.2:p.Pro332Ser
LRG_315t1:c.994C>T
LRG_315:g.20335C>T
LRG_315p1:p.Pro332Ser
NC_000005.9:g.233690C>T
NM_004168.2:c.994C>T
NM_004168.3:c.994C>T

Protein change:

P284S

Links:

dbSNP: rs373509391

NCBI 1000 Genomes Browser:

rs373509391

Molecular consequence:

NM_001294332.2:c.850C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001330758.2:c.994C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_004168.4:c.994C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002544922	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Jun 1, 2022)	germline	clinical testing	Citation Link,
SCV005410657	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 16, 2024)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 31666924, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002544922

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Uncertain significance
(Jun 1, 2022)

germline

clinical testing

Citation Link,

SCV005410657

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 16, 2024)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutational profile and genotype/phenotype correlation of non-familial pheochromocytoma and paraganglioma.

Albattal S, Alswailem M, Moria Y, Al-Hindi H, Dasouki M, Abouelhoda M, Alkhail HA, Alsuhaibani E, Alzahrani AS.

Oncotarget. 2019 Oct 15;10(57):5919-5931. doi: 10.18632/oncotarget.27194.

PubMed [citation]

PMID:: 31666924
PMCID:: PMC6800268

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV002544922.16

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

Description

SDHA: PM2

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV005410657.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (2)

Description

PM2

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		2	not provided	not provided	not provided

Last Updated: Nov 30, 2024

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