NM_001369.3(DNAH5):c.12379C>T (p.Arg4127Cys) AND Primary ciliary dyskinesia 3

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 26, 2017
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:: RCV000669663.2

Allele description [Variation Report for NM_001369.3(DNAH5):c.12379C>T (p.Arg4127Cys)]

NM_001369.3(DNAH5):c.12379C>T (p.Arg4127Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5p15.2

Genomic location:

Preferred name:

NM_001369.3(DNAH5):c.12379C>T (p.Arg4127Cys)

HGVS:

NC_000005.10:g.13719002G>A
NG_013081.2:g.230479C>T
NM_001369.3:c.12379C>TMANE SELECT
NP_001360.1:p.Arg4127Cys
NP_001360.1:p.Arg4127Cys
NC_000005.9:g.13719111G>A
NM_001369.2:c.12379C>T

Protein change:

R4127C

Links:

dbSNP: rs148696723

NCBI 1000 Genomes Browser:

rs148696723

Molecular consequence:

NM_001369.3:c.12379C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000794439	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Sep 26, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000794439

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Sep 26, 2017)

unknown

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities.

Ferkol TW, Puffenberger EG, Lie H, Helms C, Strauss KA, Bowcock A, Carson JL, Hazucha M, Morton DH, Patel AC, Leigh MW, Knowles MR, Zariwala MA.

J Pediatr. 2013 Aug;163(2):383-7. doi: 10.1016/j.jpeds.2013.01.061. Epub 2013 Mar 7.

PubMed [citation]

PMID:: 23477994
PMCID:: PMC3725203

Details of each submission

From Counsyl, SCV000794439.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 12, 2024

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