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

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 8, 2023
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:
RCV001267722.6

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:
Hypertrophic cardiomyopathy
Synonyms:
HYPERTROPHIC MYOCARDIOPATHY
Identifiers:
MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001445977Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Feb 8, 2023) 		germlinecuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

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 Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, SCV001445977.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

The heterozygous p.Asn255del variant in KIF5B was identified by our study in three siblings with hypertrophic cardiomyopathy (PMID: 36018820). This variant was absent from large population studies. This variant has also been reported in ClinVar (Variation ID: 986389) and has been interpreted as pathogenic by the Tartaglia Lab, Genetics and Rare Diseases Research Division (Bambino Gesu' Children's Hospital). Animal models in zebrafish have shown that this variant causes phenotypic features consistent with cardiomyopathy, including morphological anomalies in heart size and anatomy and heart edema (PMID: 36018820). This variant is a deletion of 1 amino acid at position 255 and is not predicted to alter the protein reading-frame. This deletion is expected to impact the protein. Although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic for autosomal dominant hypertrophic cardiomyopathy. ACMG/AMP Criteria applied: PS3, PM2_Supporting, PM4_Supporting (Richards 2015).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 6, 2024