NM_018451.5(CENPJ):c.1434del (p.Lys479fs) AND Seckel syndrome 4

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 27, 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:: RCV001335001.1

Allele description [Variation Report for NM_018451.5(CENPJ):c.1434del (p.Lys479fs)]

NM_018451.5(CENPJ):c.1434del (p.Lys479fs)

Gene:

CENPJ:centromere protein J [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

13q12.13

Genomic location:

Preferred name:

NM_018451.5(CENPJ):c.1434del (p.Lys479fs)

HGVS:

NC_000013.11:g.24906607del
NG_009165.2:g.21344del
NM_018451.5:c.1434delMANE SELECT
NP_060921.3:p.Lys479fs
NC_000013.10:g.25480742del
NC_000013.10:g.25480745del
NM_018451.4:c.1434delG
NR_047594.2:n.1601del
NR_047595.2:n.1601del

Protein change:

K479fs

Links:

dbSNP: rs1954548327

NCBI 1000 Genomes Browser:

rs1954548327

Molecular consequence:

NM_018451.5:c.1434del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_047594.2:n.1601del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_047595.2:n.1601del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Seckel syndrome 4 (SCKL4)
Identifiers:: MONDO: MONDO:0013358; MedGen: C3888212; Orphanet: 808; OMIM: 613676

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001528028	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 27, 2018)	maternal	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

SCV001528028

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 27, 2018)

maternal

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	maternal	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 Baylor Genetics, SCV001528028.1

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

Description

This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Sep 29, 2024

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