NM_004521.3(KIF5B):c.762CAA[1] (p.Asn255del) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
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:: RCV002463581.1

Allele description [Variation Report for NM_004521.3(KIF5B):c.762CAA[1] (p.Asn255del)]

NM_004521.3(KIF5B):c.762CAA[1] (p.Asn255del)

Gene:

KIF5B:kinesin family member 5B [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

10p11.22

Genomic location:

Preferred name:

NM_004521.3(KIF5B):c.762CAA[1] (p.Asn255del)

HGVS:

NC_000010.11:g.32035939TTG[1]
NM_004521.3:c.762CAA[1]MANE SELECT
NM_004521.3:c.765_767delCAA
NP_004512.1:p.Asn255del
NC_000010.10:g.32324867TTG[1]
NC_000010.11:g.32035942_32035944del
NM_004521.3:c.765_767delMANE SELECT
NM_004521.3:c.765_767delCAAMANE SELECT

Protein change:

N255del

Links:

dbSNP: rs1841455410

NCBI 1000 Genomes Browser:

rs1841455410

Molecular consequence:

NM_004521.3:c.762CAA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Primary dilated cardiomyopathy (DCM)
Synonyms:: Dilated Cardiomyopathy
Identifiers:: EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644

Name:: Ophthalmoplegia
Identifiers:: MONDO: MONDO:0003425; MedGen: C0029089; Human Phenotype Ontology: HP:0000602

Name:: Multiple joint contractures
Identifiers:: MedGen: C0158118; Human Phenotype Ontology: HP:0002828

Name:: Skeletal myopathy
Synonyms:: Skeletal muscle disease; Skeletal muscle disorder
Identifiers:: MONDO: MONDO:0020120; MedGen: C1533847; Orphanet: 98472; Human Phenotype Ontology: HP:0003756

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002524132	Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	paternal	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002524132

Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

paternal

research

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	paternal	yes	not provided	not provided	not provided	not provided	not provided	research

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 Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital, SCV002524132.1

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

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

Last Updated: Apr 6, 2024

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