NM_004168.4(SDHA):c.1652C>T (p.Thr551Met) AND Hereditary cancer-predisposing syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 11, 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:: RCV000569746.3

Allele description

NM_004168.4(SDHA):c.1652C>T (p.Thr551Met)

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.1652C>T (p.Thr551Met)

HGVS:

NC_000005.10:g.251092C>T
NG_012339.1:g.37852C>T
NM_001294332.2:c.1508C>T
NM_001330758.2:c.1552-3301C>T
NM_004168.4:c.1652C>TMANE SELECT
NP_001281261.1:p.Thr503Met
NP_004159.2:p.Thr551Met
LRG_315t1:c.1652C>T
LRG_315:g.37852C>T
LRG_315p1:p.Thr551Met
NC_000005.9:g.251207C>T
NM_004168.2:c.1652C>T
NM_004168.3:c.1652C>T

Protein change:

T503M

Links:

dbSNP: rs181238392

NCBI 1000 Genomes Browser:

rs181238392

Molecular consequence:

NM_001330758.2:c.1552-3301C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001294332.2:c.1508C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_004168.4:c.1652C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000674999	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Uncertain significance (Apr 11, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000674999

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Uncertain significance
(Apr 11, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000674999.5

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

Description

The p.T551M variant (also known as c.1652C>T), located in coding exon 12 of the SDHA gene, results from a C to T substitution at nucleotide position 1652. The threonine at codon 551 is replaced by methionine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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		not provided	not provided	not provided	not provided

Last Updated: Mar 5, 2024

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