NM_003001.5(SDHC):c.25G>A (p.Val9Ile) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 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:: RCV002429110.9

Allele description [Variation Report for NM_003001.5(SDHC):c.25G>A (p.Val9Ile)]

NM_003001.5(SDHC):c.25G>A (p.Val9Ile)

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.25G>A (p.Val9Ile)

HGVS:

NC_000001.11:g.161323618G>A
NG_012767.1:g.14243G>A
NM_001035511.3:c.25G>A
NM_001035512.3:c.25G>A
NM_001035513.3:c.20+9193G>A
NM_001278172.3:c.25G>A
NM_001407115.1:c.25G>A
NM_001407116.1:c.21-4778G>A
NM_001407117.1:c.21-4778G>A
NM_001407118.1:c.25G>A
NM_001407119.1:c.-87G>A
NM_001407120.1:c.-205G>A
NM_001407121.1:c.21-4778G>A
NM_003001.5:c.25G>AMANE SELECT
NP_001030588.1:p.Val9Ile
NP_001030589.1:p.Val9Ile
NP_001265101.1:p.Val9Ile
NP_001394044.1:p.Val9Ile
NP_001394047.1:p.Val9Ile
NP_002992.1:p.Val9Ile
NP_002992.1:p.Val9Ile
LRG_317t1:c.25G>A
LRG_317:g.14243G>A
LRG_317p1:p.Val9Ile
NC_000001.10:g.161293408G>A
NM_003001.3:c.25G>A
NR_103459.3:n.50G>A

Protein change:

V9I

Links:

dbSNP: rs774768866

NCBI 1000 Genomes Browser:

rs774768866

Molecular consequence:

NM_001407119.1:c.-87G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407120.1:c.-205G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001035513.3:c.20+9193G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407116.1:c.21-4778G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407117.1:c.21-4778G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407121.1:c.21-4778G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001035511.3:c.25G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001035512.3:c.25G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001278172.3:c.25G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407115.1:c.25G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407118.1:c.25G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003001.5:c.25G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_103459.3:n.50G>A - 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
SCV002743031	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 28, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002743031

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 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, SCV002743031.2

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

Description

The p.V9I variant (also known as c.25G>A), located in coding exon 2 of the SDHC gene, results from a G to A substitution at nucleotide position 25. The valine at codon 9 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not well 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: Nov 24, 2024

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