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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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000579338Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS)

See additional submitters

no assertion criteria provided
Likely pathogenicunknownresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedresearch

Details of each submission

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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedresearchnot 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)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024