NM_003001.5(SDHC):c.119G>A (p.Arg40Gln) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: May 24, 2023
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:: RCV000568226.7

Allele description [Variation Report for NM_003001.5(SDHC):c.119G>A (p.Arg40Gln)]

NM_003001.5(SDHC):c.119G>A (p.Arg40Gln)

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.119G>A (p.Arg40Gln)

HGVS:

NC_000001.11:g.161328437G>A
NG_012767.1:g.19062G>A
NM_001035511.3:c.119G>A
NM_001035512.3:c.77+4767G>A
NM_001035513.3:c.21-12157G>A
NM_001278172.3:c.77+4767G>A
NM_001407115.1:c.119G>A
NM_001407116.1:c.62G>A
NM_001407117.1:c.62G>A
NM_001407118.1:c.77+4767G>A
NM_001407119.1:c.8G>A
NM_001407120.1:c.8G>A
NM_001407121.1:c.62G>A
NM_003001.5:c.119G>AMANE SELECT
NP_001030588.1:p.Arg40Gln
NP_001394044.1:p.Arg40Gln
NP_001394045.1:p.Arg21Gln
NP_001394046.1:p.Arg21Gln
NP_001394048.1:p.Arg3Gln
NP_001394049.1:p.Arg3Gln
NP_001394050.1:p.Arg21Gln
NP_002992.1:p.Arg40Gln
NP_002992.1:p.Arg40Gln
LRG_317t1:c.119G>A
LRG_317:g.19062G>A
LRG_317p1:p.Arg40Gln
NC_000001.10:g.161298227G>A
NM_003001.3:c.119G>A
NR_103459.3:n.144G>A

Protein change:

R21Q

Links:

dbSNP: rs772450693

NCBI 1000 Genomes Browser:

rs772450693

Molecular consequence:

NM_001035512.3:c.77+4767G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001035513.3:c.21-12157G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001278172.3:c.77+4767G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407118.1:c.77+4767G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001035511.3:c.119G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407115.1:c.119G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407116.1:c.62G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407117.1:c.62G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407119.1:c.8G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407120.1:c.8G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407121.1:c.62G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003001.5:c.119G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_103459.3:n.144G>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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000675096	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 24, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV002527098	Sema4, Sema4	criteria provided, single submitter (Sema4 Curation Guidelines)	Uncertain significance (Jan 12, 2022)	germline	curation	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000675096

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 24, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link,

SCV002527098

Sema4, Sema4

criteria provided, single submitter

(Sema4 Curation Guidelines)

Uncertain significance
(Jan 12, 2022)

germline

curation

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, curation

Citations

PubMed

Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.

Panizza E, Ercolino T, Mori L, Rapizzi E, Castellano M, Opocher G, Ferrero I, Neumann HP, Mannelli M, Goffrini P.

Hum Mol Genet. 2013 Feb 15;22(4):804-15. doi: 10.1093/hmg/dds487. Epub 2012 Nov 21.

PubMed [citation]

PMID:: 23175444

Details of each submission

From Ambry Genetics, SCV000675096.6

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

Description

The p.R40Q variant (also known as c.119G>A), located in coding exon 3 of the SDHC gene, results from a G to A substitution at nucleotide position 119. The arginine at codon 40 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. 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

From Sema4, Sema4, SCV002527098.1

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

#	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: Oct 13, 2024

ClinVar

Relating variation to medicine