NM_003000.3(SDHB):c.304G>A (p.Ala102Thr) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 13, 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:: RCV001018296.5

Allele description [Variation Report for NM_003000.3(SDHB):c.304G>A (p.Ala102Thr)]

NM_003000.3(SDHB):c.304G>A (p.Ala102Thr)

Gene:

SDHB:succinate dehydrogenase complex iron sulfur subunit B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.13

Genomic location:

Preferred name:

NM_003000.3(SDHB):c.304G>A (p.Ala102Thr)

HGVS:

NC_000001.11:g.17028719C>T
NG_012340.1:g.30452G>A
NM_003000.3:c.304G>AMANE SELECT
NP_002991.2:p.Ala102Thr
LRG_316t1:c.304G>A
LRG_316:g.30452G>A
NC_000001.10:g.17355214C>T
NC_000001.10:g.17355214C>T
NM_003000.2:c.304G>A

Protein change:

A102T; ALA102THR

Links:

OMIM: 185470.0024; dbSNP: rs777578399

NCBI 1000 Genomes Browser:

rs777578399

Molecular consequence:

NM_003000.3:c.304G>A - 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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peptidyl-glycine alpha-amidating monooxygenase isoform X6 [Homo sapiens]
peptidyl-glycine alpha-amidating monooxygenase isoform X6 [Homo sapiens]
gi|1370494432|ref|XP_024301837.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001179515	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 13, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 32124427, 36200007 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001179515

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 13, 2023)

germline

clinical testing

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

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

Citations

PubMed

Novel variant p.(Ala102Thr) in SDHB causes mitochondrial complex II deficiency: Case report and review of the literature.

Kaur P, Sharma S, Kadavigere R, Girisha KM, Shukla A.

Ann Hum Genet. 2020 Jul;84(4):345-351. doi: 10.1111/ahg.12377. Epub 2020 Mar 2. Review.

PubMed [citation]

PMID:: 32124427

Spectrum and management of breast cancer patients with variant of uncertain significance mutations at a tertiary care centre in North India.

Mittal A, Deo SVS, Gogia A, Batra A, Kumar A, Bhoriwal S, Deb KS, Dhamija E, Ramprasad VL, Olopade O, Pramanik R.

Ecancermedicalscience. 2022;16:1434. doi: 10.3332/ecancer.2022.1434.

PubMed [citation]

PMID:: 36200007
PMCID:: PMC9470172

Details of each submission

From Ambry Genetics, SCV001179515.5

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

Description

The p.A102T variant (also known as c.304G>A), located in coding exon 4 of the SDHB gene, results from a G to A substitution at nucleotide position 304. The alanine at codon 102 is replaced by threonine, an amino acid with similar properties. This alteration has been reported in the homozygous state in an individual with Leigh syndrome (Kaur P et al. Ann Hum Genet, 2020 Jul;84:345-351). This alteration has also been reported in a breast cancer cohort from India (Mittal A et al. Ecancermedicalscience, 2022 Aug;16:1434). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. 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: Sep 29, 2024

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