NM_003001.5(SDHC):c.359T>G (p.Leu120Arg) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 16, 2022
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:: RCV003166865.3

Allele description [Variation Report for NM_003001.5(SDHC):c.359T>G (p.Leu120Arg)]

NM_003001.5(SDHC):c.359T>G (p.Leu120Arg)

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.359T>G (p.Leu120Arg)

HGVS:

NC_000001.11:g.161356794T>G
NG_012767.1:g.47419T>G
NM_001035511.3:c.242-5535T>G
NM_001035512.3:c.257T>G
NM_001035513.3:c.200T>G
NM_001278172.3:c.140-5535T>G
NM_001407115.1:c.479T>G
NM_001407116.1:c.302T>G
NM_001407117.1:c.296T>G
NM_001407118.1:c.251T>G
NM_001407119.1:c.248T>G
NM_001407120.1:c.248T>G
NM_001407121.1:c.185-5535T>G
NM_003001.5:c.359T>GMANE SELECT
NP_001030589.1:p.Leu86Arg
NP_001030590.1:p.Leu67Arg
NP_001394044.1:p.Leu160Arg
NP_001394045.1:p.Leu101Arg
NP_001394046.1:p.Leu99Arg
NP_001394047.1:p.Leu84Arg
NP_001394048.1:p.Leu83Arg
NP_001394049.1:p.Leu83Arg
NP_002992.1:p.Leu120Arg
NP_002992.1:p.Leu120Arg
LRG_317t1:c.359T>G
LRG_317:g.47419T>G
LRG_317p1:p.Leu120Arg
NC_000001.10:g.161326584T>G
NM_003001.3:c.359T>G
NR_103459.3:n.411T>G

Protein change:

L101R

Links:

dbSNP: rs1672292051

NCBI 1000 Genomes Browser:

rs1672292051

Molecular consequence:

NM_001035511.3:c.242-5535T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001278172.3:c.140-5535T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407121.1:c.185-5535T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001035512.3:c.257T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001035513.3:c.200T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407115.1:c.479T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407116.1:c.302T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407117.1:c.296T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407118.1:c.251T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407119.1:c.248T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407120.1:c.248T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003001.5:c.359T>G - missense variant - [Sequence Ontology: SO:0001583]
NR_103459.3:n.411T>G - 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

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Mus musculus ret proto-oncogene (Ret), transcript variant 2, mRNA
Mus musculus ret proto-oncogene (Ret), transcript variant 2, mRNA
gi|124256483|ref|NM_009050.2|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003858662	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 16, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003858662

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 16, 2022)

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, SCV003858662.2

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

Description

The p.L120R variant (also known as c.359T>G), located in coding exon 5 of the SDHC gene, results from a T to G substitution at nucleotide position 359. The leucine at codon 120 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. 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 16, 2024

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