NM_018972.4(GDAP1):c.349dup (p.Tyr117fs) AND Charcot-Marie-Tooth disease recessive intermediate A

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jul 19, 2018
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:: RCV000004416.8

Allele description

NM_018972.4(GDAP1):c.349dup (p.Tyr117fs)

Gene:

GDAP1:ganglioside induced differentiation associated protein 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

8q21.11

Genomic location:

Preferred name:

NM_018972.4(GDAP1):c.349dup (p.Tyr117fs)

HGVS:

NC_000008.11:g.74360175dup
NG_008787.3:g.44046dup
NM_001040875.4:c.145dup
NM_001362929.2:c.22dup
NM_001362930.2:c.311-1709dup
NM_001362931.2:c.349dup
NM_001362932.2:c.22dup
NM_018972.4:c.349dupMANE SELECT
NP_001035808.1:p.Tyr49fs
NP_001349858.1:p.Tyr8fs
NP_001349860.1:p.Tyr117fs
NP_001349861.1:p.Tyr8fs
NP_061845.2:p.Tyr117fs
LRG_244:g.44046dup
NC_000008.10:g.75272410dup
NM_018972.2:c.349dupT

Note:

ClinGen staff contributed the HGVS expression for this variant.

Protein change:

Y117fs

Links:

OMIM: 606598.0007; dbSNP: rs1586803063

NCBI 1000 Genomes Browser:

rs1586803063

Molecular consequence:

NM_001040875.4:c.145dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001362929.2:c.22dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001362931.2:c.349dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001362932.2:c.22dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_018972.4:c.349dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001362930.2:c.311-1709dup - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Name:: Charcot-Marie-Tooth disease recessive intermediate A (CMTRIA)
Synonyms:: CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE A
Identifiers:: MONDO: MONDO:0012014; MedGen: C1842197; Orphanet: 217055; OMIM: 608340

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000024589	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 2003)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV001150117	Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	criteria provided, single submitter (Classification criteria August 2017)	Pathogenic (Jul 19, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000024589

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 2003)

germline

literature only

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

SCV001150117

Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

criteria provided, single submitter

(Classification criteria August 2017)

Pathogenic
(Jul 19, 2018)

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.

Senderek J, Bergmann C, Ramaekers VT, Nelis E, Bernert G, Makowski A, Züchner S, De Jonghe P, Rudnik-Schöneborn S, Zerres K, Schröder JM.

Brain. 2003 Mar;126(Pt 3):642-9.

PubMed [citation]

PMID:: 12566285

Details of each submission

From OMIM, SCV000024589.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 2 affected members of a consanguineous Turkish family with autosomal recessive intermediate Charcot-Marie-Tooth disease (CMTRIA; 608340), Senderek et al. (2003) identified homozygosity for a 1-bp insertion (349T) in exon 3 of the GDAP1 gene, resulting in a premature stop codon.

#	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		not provided	not provided	not provided	not provided

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV001150117.1

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

Last Updated: Apr 20, 2024

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