NM_001369.3(DNAH5):c.4530del (p.Asn1511fs) AND Kartagener syndrome

Germline classification:: Likely pathogenic (1 submission)
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:: RCV000578159.2

Allele description [Variation Report for NM_001369.3(DNAH5):c.4530del (p.Asn1511fs)]

NM_001369.3(DNAH5):c.4530del (p.Asn1511fs)

Gene:

DNAH5:dynein axonemal heavy chain 5 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

5p15.2

Genomic location:

Preferred name:

NM_001369.3(DNAH5):c.4530del (p.Asn1511fs)

HGVS:

NC_000005.10:g.13864466del
NG_013081.2:g.85018del
NM_001369.3:c.4530delMANE SELECT
NP_001360.1:p.Asn1511fs
NC_000005.9:g.13864572del
NC_000005.9:g.13864575del
NM_001369.2:c.4530delG

Protein change:

N1511fs

Links:

dbSNP: rs1554082275

NCBI 1000 Genomes Browser:

rs1554082275

Molecular consequence:

NM_001369.3:c.4530del - frameshift variant - [Sequence Ontology: SO:0001589]

Functional consequence:

variation affecting protein [Variation Ontology: 0002]

Condition(s)

Name:: Kartagener syndrome (CILD1)
Synonyms:: CILIARY DYSKINESIA, PRIMARY, 1; CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS; IMMOTILE CILIA SYNDROME; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009484; MedGen: C4551906; Orphanet: 244; OMIM: 244400

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000579338	Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS) See additional submitters Molecular Genetics Unit, Centre of Medical Genetics Dr. Jacinto de Magalhães (CGMJM), CHP	no assertion criteria provided	Likely pathogenic	unknown	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000579338

Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS)

See additional submitters

no assertion criteria provided

Likely pathogenic

unknown

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	1	not provided	not provided	not provided	not provided	research

Details of each submission

From Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS), SCV000579338.1

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

Description

We interpret as likely compound heterozygous since we found another potential pathogenic variant in the same gene (also submitted to ClinVar: NM_001369.2:c.6000C>A)

#	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		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine