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NM_003001.3(SDHC):c.20+11_20+12dup AND Charcot-Marie-Tooth disease type 4E

Germline classification:
Benign (2 submissions)
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:
RCV000354800.13

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 4E (CHN1)
Synonyms:
HYPOMYELINATION, SEVERE CONGENITAL; Congenital hypomyelinating neuropathy 1, autosomal recessive; CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4E; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011527; MedGen: C4721436; Orphanet: 99951; OMIM: 605253

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000482988Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Benign
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV000482990Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Benign
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000482988.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Illumina Laboratory Services, Illumina, SCV000482990.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 16, 2025