NM_003001.3(SDHC):c.20+11_20+12dup AND not provided

Germline classification:: Benign (3 submissions)
Last evaluated:: Nov 29, 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:: RCV000587490.21

Allele description [Variation Report for NM_003001.3(SDHC):c.20+11_20+12dup]

NM_003001.3(SDHC):c.20+11_20+12dup

Genes:

MPZ:myelin protein zero [Gene - OMIM - HGNC]
SDHC:succinate dehydrogenase complex subunit C [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

1q23.3

Genomic location:

Preferred name:

NM_003001.3(SDHC):c.20+11_20+12dup

HGVS:

NC_000001.10:g.161284224_161284225insGT
NC_000001.11:g.161314436_161314437dup
NG_008055.1:g.537_538dup
NG_012767.1:g.5061_5062dup
NG_092506.1:g.580_581dup
NM_001035511.3:c.20+11_20+12dup
NM_001035512.3:c.20+11_20+12dup
NM_001035513.3:c.20+11_20+12dup
NM_001278172.3:c.20+11_20+12dup
NM_001407115.1:c.20+11_20+12dup
NM_001407116.1:c.20+11_20+12dup
NM_001407117.1:c.20+11_20+12dup
NM_001407118.1:c.20+11_20+12dup
NM_001407119.1:c.-530_-529dup
NM_001407120.1:c.-210+11_-210+12dup
NM_001407121.1:c.20+11_20+12dup
NM_003001.5:c.20+11_20+12dupMANE SELECT
LRG_256:g.537_538dup
LRG_317:g.5061_5062dup
NC_000001.10:g.161284224_161284225insGT
NC_000001.10:g.161284226_161284227dup
NC_000001.10:g.161284226_161284227dup
NC_000001.10:g.161284226_161284227dupTG
NC_000001.10:g.161284227_161284228insTG
NM_003001.3:c.20+11_20+12dupTG
c.20+11_20+12dupTG

Links:

dbSNP: rs35215598

NCBI 1000 Genomes Browser:

rs35215598

Molecular consequence:

NM_001407119.1:c.-530_-529dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001035511.3:c.20+11_20+12dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001035512.3:c.20+11_20+12dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001035513.3:c.20+11_20+12dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001278172.3:c.20+11_20+12dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407115.1:c.20+11_20+12dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407116.1:c.20+11_20+12dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407117.1:c.20+11_20+12dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407118.1:c.20+11_20+12dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407120.1:c.-210+11_-210+12dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407121.1:c.20+11_20+12dup - intron variant - [Sequence Ontology: SO:0001627]
NM_003001.5:c.20+11_20+12dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000698137	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Benign (May 25, 2016)	germline	clinical testing	LabCorp Variant Classification Summary - May 2015.docx, Citation Link,
SCV001846279	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Sep 25, 2018)	germline	clinical testing	Citation Link,
SCV002048066	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Benign (Nov 29, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000698137

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Benign
(May 25, 2016)

germline

clinical testing

LabCorp Variant Classification Summary - May 2015.docx,

Citation Link,

SCV001846279

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Sep 25, 2018)

germline

clinical testing

Citation Link,

SCV002048066

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)

Benign
(Nov 29, 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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000698137.1

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

Description

Variant summary: The SDHC c.20+11_20+12dupTG is an intronic variant at a position not widely known to affect splicing. One in silico tool (MutationTaster) predicts a damaging outcome for this variant. 4/5 splice prediction tools predict no significant change to the normal splicing. This variant was found in 12727/120920 control chromosomes (including 891 homozygotes) at a frequency of 0.1052514, which is approximately 673609 times the estimated maximal expected allele frequency of a pathogenic SDHC variant (0.0000002), suggesting this variant is a common benign polymorphism. In addition, one clinical diagnostic laboratory classified this variant as benign. Taken together, based on the allele frequency in the general population, this variant is classified as Benign.

#	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 GeneDx, SCV001846279.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV002048066.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	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: Mar 16, 2025

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