NM_001369.3(DNAH5):c.2797dup (p.Ala933fs) AND Primary ciliary dyskinesia 3

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 23, 2021
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:: RCV001728048.1

Allele description [Variation Report for NM_001369.3(DNAH5):c.2797dup (p.Ala933fs)]

NM_001369.3(DNAH5):c.2797dup (p.Ala933fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

5p15.2

Genomic location:

Preferred name:

NM_001369.3(DNAH5):c.2797dup (p.Ala933fs)

HGVS:

NC_000005.10:g.13885177dup
NG_013081.2:g.64306dup
NM_001369.3:c.2797dupMANE SELECT
NP_001360.1:p.Ala933fs
NC_000005.9:g.13885286dup
NM_001369.2:c.2797dupG

Protein change:

A933fs

Links:

dbSNP: rs2151941780

NCBI 1000 Genomes Browser:

rs2151941780

Molecular consequence:

NM_001369.3:c.2797dup - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Primary ciliary dyskinesia 3
Identifiers:: MONDO: MONDO:0012085; MedGen: C1837618; Orphanet: 244; OMIM: 608644

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001976444	Genetic Diagnostics Department, Viafet Genomics Laboratory	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Aug 23, 2021)	germline	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

SCV001976444

Genetic Diagnostics Department, Viafet Genomics Laboratory

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Aug 23, 2021)

germline

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	germline	no	1	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 Genetic Diagnostics Department, Viafet Genomics Laboratory, SCV001976444.1

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

Description

As part of Carrier Screening testing performed at Viafet Genomics Laboratory, this variant was identified in a heterozygous state in a patient who is not affected with this condition. This variant is present in exon 19/79 in the only transcript of this gene. Several loss-of-function variants are reported as disease-causing in HGMD and/or ClinVar after this position.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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Relating variation to medicine