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

Germline classification:: Benign (3 submissions)
Last evaluated:: Oct 26, 2018
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:: RCV000037724.20

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

Other names:

p.?

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_003001.3:c.20+11_20+12dup
NM_003001.5:c.20+11_20+12dupMANE SELECT
LRG_317t1:c.20+11_20+12dup
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]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000061386	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Nov 5, 2013)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 19454582, 24033266
SCV000309337	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV007307110	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Oct 26, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000061386

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(Nov 5, 2013)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV000309337

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign

germline

clinical testing

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

SCV007307110

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Oct 26, 2018)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	107	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	5	5	not provided	not provided	not provided	clinical testing

Citations

PubMed

The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

Burnichon N, Rohmer V, Amar L, Herman P, Leboulleux S, Darrouzet V, Niccoli P, Gaillard D, Chabrier G, Chabolle F, Coupier I, Thieblot P, Lecomte P, Bertherat J, Wion-Barbot N, Murat A, Venisse A, Plouin PF, Jeunemaitre X, Gimenez-Roqueplo AP; PGL.NET network.

J Clin Endocrinol Metab. 2009 Aug;94(8):2817-27. doi: 10.1210/jc.2008-2504. Epub 2009 May 19.

PubMed [citation]

PMID:: 19454582

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000061386.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	5	not provided	not provided	clinical testing	PubMed (2)

Description

20+11_20+12dupTG in intron 1 of SDHC: This variant has been identified in 15% ( 63/420) of patients with hereditary paraganglioma and in 6% (11/200) of controls (Burnichon 2009). This variant is also annotated as a common polymorphism in db SNP and but has been identified in 6% (516/8254) of European American chromosome s and 21% (889/4266) of African American chromosomes by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS/; dbSNP rs27118366). This variant i s located in the 5' splice region and computational tools do not suggest an impa ct to splicing. However, this information is not predictive enough to rule out p athogenicity. In summary, these data support that the 20+11_20+12dupTG variant i s benign based on frequency data.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		5	not provided	5	not provided

From PreventionGenetics, part of Exact Sciences, SCV000309337.1

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

#	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 Mayo Clinic Laboratories, Mayo Clinic, SCV007307110.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	107	not provided	not provided	clinical testing	PubMed (1)

#	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		107	not provided	not provided	not provided

Last Updated: Feb 1, 2026

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