NM_018076.5(ODAD2):c.2347T>A (p.Cys783Ser) AND Primary ciliary dyskinesia

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 10, 2024
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:: RCV004040253.1

Allele description [Variation Report for NM_018076.5(ODAD2):c.2347T>A (p.Cys783Ser)]

NM_018076.5(ODAD2):c.2347T>A (p.Cys783Ser)

Gene:

ODAD2:outer dynein arm docking complex subunit 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10p12.1

Genomic location:

Preferred name:

NM_018076.5(ODAD2):c.2347T>A (p.Cys783Ser)

HGVS:

NC_000010.11:g.27935158A>T
NG_042820.1:g.68893T>A
NM_001290020.2:c.2347T>A
NM_001290021.2:c.922T>A
NM_001312689.2:c.1423T>A
NM_018076.2:c.2347T>A
NM_018076.5:c.2347T>AMANE SELECT
NP_001276949.1:p.Cys783Ser
NP_001276950.1:p.Cys308Ser
NP_001299618.1:p.Cys475Ser
NP_060546.2:p.Cys783Ser
NC_000010.10:g.28224087A>T
NM_018076.3:c.2347T>A

Protein change:

C308S

Links:

dbSNP: rs767169905

NCBI 1000 Genomes Browser:

rs767169905

Molecular consequence:

NM_001290020.2:c.2347T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001290021.2:c.922T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001312689.2:c.1423T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_018076.5:c.2347T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003710989	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 10, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003710989

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 10, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003710989.2

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

Description

The p.C783S variant (also known as c.2347T>A), located in coding exon 15 of the ARMC4 gene, results from a T to A substitution at nucleotide position 2347. The cysteine at codon 783 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

#	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		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

ClinVar

Relating variation to medicine