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

Germline classification:: Benign (1 submission)
Last evaluated:: Feb 4, 2025
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:: RCV001521360.16

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)

Name:: Gastrointestinal stromal tumor
Synonyms:: Gastrointestinal Stromal Sarcoma; Gastrointestinal stromal tumor, somatic; Gastrointestinal stroma tumor
Identifiers:: MONDO: MONDO:0011719; MeSH: D046152; MedGen: C0238198; Orphanet: 44890; OMIM: 606764; Human Phenotype Ontology: HP:0100723

Name:: Paragangliomas 3 (PPGL3)
Synonyms:: GLOMUS TUMORS, FAMILIAL, 3; SDHC-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome (Paragangliomas 3); PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 3
Identifiers:: MONDO: MONDO:0011544; MedGen: C1854336; Orphanet: 29072; OMIM: 605373

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
SCV001730692	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Feb 4, 2025)	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

SCV001730692

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Feb 4, 2025)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9..

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001730692.5

#	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

Last Updated: Mar 16, 2025

ClinVar

Relating variation to medicine