NM_018076.5(ODAD2):c.2347T>A (p.Cys783Ser) AND Primary ciliary dyskinesia 23

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 18, 2023
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:: RCV003741274.2

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 23 (CILD23)
Synonyms:: CILIARY DYSKINESIA, PRIMARY, 23, WITH OR WITHOUT SITUS INVERSUS
Identifiers:: MONDO: MONDO:0014193; MedGen: C3809548; Orphanet: 244; OMIM: 615451

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
SCV004523062	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 18, 2023)	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

SCV004523062

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 18, 2023)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004523062.1

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

Description

This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 783 of the ARMC4 protein (p.Cys783Ser). This variant is present in population databases (rs767169905, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ARMC4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1312866). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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