NM_003001.3(SDHC):c.20+11_20+12dup AND Charcot-Marie-Tooth disease, type I

Germline classification:: Benign (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000397974.13

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:: Charcot-Marie-Tooth disease, type I (CMT1)
Synonyms:: Charcot-Marie-Tooth, Type 1; Charcot-Marie-Tooth disease type 1
Identifiers:: MONDO: MONDO:0019011; MedGen: C0751036

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000482991	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Benign (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000482991

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Benign
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

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 Illumina Laboratory Services, Illumina, SCV000482991.2

#	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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