NM_018972.4(GDAP1):c.140del (p.Lys47fs) AND Charcot-Marie-Tooth disease axonal type 2K

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 26, 2020
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:: RCV001250993.1

Allele description [Variation Report for NM_018972.4(GDAP1):c.140del (p.Lys47fs)]

NM_018972.4(GDAP1):c.140del (p.Lys47fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

8q21.11

Genomic location:

Preferred name:

NM_018972.4(GDAP1):c.140del (p.Lys47fs)

HGVS:

NC_000008.11:g.74351296del
NG_008787.3:g.35167del
NM_001040875.4:c.-63-2del
NM_001362929.2:c.-43del
NM_001362930.2:c.140del
NM_001362931.2:c.140del
NM_001362932.2:c.-18+718del
NM_018972.4:c.140delMANE SELECT
NP_001349859.1:p.Lys47fs
NP_001349860.1:p.Lys47fs
NP_061845.2:p.Lys47Argfs
NP_061845.2:p.Lys47fs
LRG_244t1:c.140del
LRG_244:g.35167del
LRG_244p1:p.Lys47Argfs
NC_000008.10:g.75263531del
NM_018972.2:c.140delA
NR_046346.1:n.219delA

Protein change:

K47fs

Links:

dbSNP: rs1808858148

NCBI 1000 Genomes Browser:

rs1808858148

Molecular consequence:

NM_001362929.2:c.-43del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001362930.2:c.140del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001362931.2:c.140del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_018972.4:c.140del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001362932.2:c.-18+718del - intron variant - [Sequence Ontology: SO:0001627]
NM_001040875.4:c.-63-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]

Functional consequence:

protein truncation [Variation Ontology: 0015]

Observations:

Condition(s)

Name:: Charcot-Marie-Tooth disease axonal type 2K
Synonyms:: CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2K; Charcot-Marie-Tooth disease type 2K; Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K
Identifiers:: MONDO: MONDO:0011916; MedGen: C1842983; Orphanet: 99944; OMIM: 607831

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001424519	Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 26, 2020)	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001424519

Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 26, 2020)

de novo

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian	de novo	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico, SCV001424519.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian	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	de novo	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jun 10, 2023

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