NM_015512.5(DNAH1):c.9646C>G (p.Leu3216Val) AND Primary ciliary dyskinesia

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 18, 2019
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:: RCV001255314.2

Allele description [Variation Report for NM_015512.5(DNAH1):c.9646C>G (p.Leu3216Val)]

NM_015512.5(DNAH1):c.9646C>G (p.Leu3216Val)

Gene:

DNAH1:dynein axonemal heavy chain 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.1

Genomic location:

Preferred name:

NM_015512.5(DNAH1):c.9646C>G (p.Leu3216Val)

HGVS:

NC_000003.12:g.52390959C>G
NG_052911.1:g.79641C>G
NM_015512.5:c.9646C>GMANE SELECT
NP_056327.4:p.Leu3216Val
NC_000003.11:g.52424975C>G
NM_015512.4:c.9646C>G

Protein change:

L3216V

Links:

dbSNP: rs200158571

NCBI 1000 Genomes Browser:

rs200158571

Molecular consequence:

NM_015512.5:c.9646C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Primary ciliary dyskinesia
Synonyms:: Ciliary dyskinesia
Identifiers:: MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001431762	UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 18, 2019)	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

SCV001431762

UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 18, 2019)

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	unknown	2	1	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 UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill, SCV001431762.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing (GTR000576399.1)	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided	(GTR000576399.1)	2	not provided	1	not provided

Last Updated: May 12, 2024

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