NM_005198.5(CHKB):c.419del (p.Pro140fs) AND Muscular dystrophy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 15, 2021
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:: RCV001795875.1

Allele description [Variation Report for NM_005198.5(CHKB):c.419del (p.Pro140fs)]

NM_005198.5(CHKB):c.419del (p.Pro140fs)

Genes:

CHKB-CPT1B:CHKB-CPT1B readthrough (NMD candidate) [Gene - HGNC]
CHKB:choline kinase beta [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

22q13.33

Genomic location:

Preferred name:

NM_005198.5(CHKB):c.419del (p.Pro140fs)

HGVS:

NC_000022.11:g.50581779del
NG_012643.1:g.1891del
NG_029213.1:g.6223del
NM_005198.5:c.419delMANE SELECT
NP_005189.2:p.Pro140fs
LRG_855:g.6223del
NC_000022.10:g.51020208del
NM_005198.5:c.419delCMANE SELECT
NR_027928.2:n.637del

Protein change:

P140fs

Links:

dbSNP: rs2146656742

NCBI 1000 Genomes Browser:

rs2146656742

Molecular consequence:

NM_005198.5:c.419del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_027928.2:n.637del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Muscular dystrophy
Identifiers:: MONDO: MONDO:0020121; MeSH: D009136; MedGen: C0026850; Human Phenotype Ontology: HP:0003560

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002037200	Institute of Human Genetics, Cologne University	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Nov 15, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002037200

Institute of Human Genetics, Cologne University

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Nov 15, 2021)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Institute of Human Genetics, Cologne University, SCV002037200.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Dec 24, 2023

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