NM_003001.5(SDHC):c.362T>C (p.Val121Ala) 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:: May 28, 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:: RCV003308395.2

Allele description

NM_003001.5(SDHC):c.362T>C (p.Val121Ala)

Gene:

SDHC:succinate dehydrogenase complex subunit C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.3

Genomic location:

Preferred name:

NM_003001.5(SDHC):c.362T>C (p.Val121Ala)

HGVS:

NC_000001.11:g.161356797T>C
NG_012767.1:g.47422T>C
NM_001035511.3:c.242-5532T>C
NM_001035512.3:c.260T>C
NM_001035513.3:c.203T>C
NM_001278172.3:c.140-5532T>C
NM_001407115.1:c.482T>C
NM_001407116.1:c.305T>C
NM_001407117.1:c.299T>C
NM_001407118.1:c.254T>C
NM_001407119.1:c.251T>C
NM_001407120.1:c.251T>C
NM_001407121.1:c.185-5532T>C
NM_003001.5:c.362T>CMANE SELECT
NP_001030589.1:p.Val87Ala
NP_001030590.1:p.Val68Ala
NP_001394044.1:p.Val161Ala
NP_001394045.1:p.Val102Ala
NP_001394046.1:p.Val100Ala
NP_001394047.1:p.Val85Ala
NP_001394048.1:p.Val84Ala
NP_001394049.1:p.Val84Ala
NP_002992.1:p.Val121Ala
NP_002992.1:p.Val121Ala
LRG_317t1:c.362T>C
LRG_317:g.47422T>C
LRG_317p1:p.Val121Ala
NC_000001.10:g.161326587T>C
NM_003001.3:c.362T>C
NR_103459.3:n.414T>C

Protein change:

V100A

Molecular consequence:

NM_001035511.3:c.242-5532T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001278172.3:c.140-5532T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407121.1:c.185-5532T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001035512.3:c.260T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001035513.3:c.203T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407115.1:c.482T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407116.1:c.305T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407117.1:c.299T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407118.1:c.254T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407119.1:c.251T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407120.1:c.251T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003001.5:c.362T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_103459.3:n.414T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV004000444	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Uncertain significance (May 28, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004000444

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Uncertain significance
(May 28, 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, SCV004000444.1

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

Description

The p.V121A variant (also known as c.362T>C), located in coding exon 5 of the SDHC gene, results from a T to C substitution at nucleotide position 362. The valine at codon 121 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated 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: Apr 15, 2024

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