NM_003632.3(CNTNAP1):c.2015G>A (p.Trp672Ter) AND Neuropathy, congenital hypomyelinating, 3

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 1, 2019
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001030776.2

Allele description [Variation Report for NM_003632.3(CNTNAP1):c.2015G>A (p.Trp672Ter)]

NM_003632.3(CNTNAP1):c.2015G>A (p.Trp672Ter)

Gene:

CNTNAP1:contactin associated protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

Preferred name:

NM_003632.3(CNTNAP1):c.2015G>A (p.Trp672Ter)

HGVS:

NC_000017.11:g.42690898G>A
NG_042091.1:g.13285G>A
NM_003632.3:c.2015G>AMANE SELECT
NP_003623.1:p.Trp672Ter
NC_000017.10:g.40842916G>A
NM_003632.2:c.2015G>A

Protein change:

W672*

Links:

dbSNP: rs1567973091

NCBI 1000 Genomes Browser:

rs1567973091

Molecular consequence:

NM_003632.3:c.2015G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Neuropathy, congenital hypomyelinating, 3
Identifiers:: MONDO: MONDO:0020766; MedGen: C4748608; OMIM: 618186

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001156083	Section for Clinical Neurogenetics, University of Tübingen	no assertion criteria provided	Pathogenic (Aug 1, 2019)	germline	research	PubMed (2) [See all records that cite these PMIDs] 28374019, 32214227

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001156083

Section for Clinical Neurogenetics, University of Tübingen

no assertion criteria provided

Pathogenic
(Aug 1, 2019)

germline

research

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis.

Hengel H, Magee A, Mahanjah M, Vallat JM, Ouvrier R, Abu-Rashid M, Mahamid J, Schüle R, Schulze M, Krägeloh-Mann I, Bauer P, Züchner S, Sharkia R, Schöls L.

Neurol Genet. 2017 Apr;3(2):e144. doi: 10.1212/NXG.0000000000000144.

PubMed [citation]

PMID:: 28374019
PMCID:: PMC5363873

First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.

Hengel H, Buchert R, Sturm M, Haack TB, Schelling Y, Mahajnah M, Sharkia R, Azem A, Balousha G, Ghanem Z, Falana M, Balousha O, Ayesh S, Keimer R, Deigendesch W, Zaidan J, Marzouqa H, Bauer P, Schöls L.

Eur J Hum Genet. 2020 Aug;28(8):1034-1043. doi: 10.1038/s41431-020-0609-9. Epub 2020 Mar 25. Erratum in: Eur J Hum Genet. 2022 Feb;30(2):248. doi: 10.1038/s41431-021-00909-7..

PubMed [citation]

PMID:: 32214227
PMCID:: PMC7382450

Details of each submission

From Section for Clinical Neurogenetics, University of Tübingen, SCV001156083.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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