NM_012472.6(DNAAF11):c.1268A>G (p.His423Arg) AND Primary ciliary dyskinesia

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 27, 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:: RCV002460503.3

Allele description [Variation Report for NM_012472.6(DNAAF11):c.1268A>G (p.His423Arg)]

NM_012472.6(DNAAF11):c.1268A>G (p.His423Arg)

Gene:

DNAAF11:dynein axonemal assembly factor 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.22

Genomic location:

Preferred name:

NM_012472.6(DNAAF11):c.1268A>G (p.His423Arg)

HGVS:

NC_000008.11:g.132572439T>C
NG_033068.2:g.135474A>G
NM_001321961.2:c.1208A>G
NM_001321962.2:c.1022A>G
NM_001321963.2:c.908A>G
NM_001321964.2:c.908A>G
NM_001321965.2:c.908A>G
NM_001321966.2:c.848A>G
NM_012472.6:c.1268A>GMANE SELECT
NP_001308890.1:p.His403Arg
NP_001308891.1:p.His341Arg
NP_001308892.1:p.His303Arg
NP_001308893.1:p.His303Arg
NP_001308894.1:p.His303Arg
NP_001308895.1:p.His283Arg
NP_036604.2:p.His423Arg
NC_000008.10:g.133584687T>C
NG_033068.1:g.108177A>G
NM_012472.3:c.1268A>G
NR_073525.3:n.1420A>G
NR_135905.2:n.1409A>G
NR_135906.2:n.850A>G
NR_135907.2:n.1096A>G
NR_135908.2:n.790A>G
NR_135909.2:n.1306A>G
NR_135910.2:n.1656A>G
NR_135911.2:n.1776A>G
NR_135912.2:n.2335A>G
NR_135913.2:n.2022A>G

Protein change:

H283R

Molecular consequence:

NM_001321961.2:c.1208A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001321962.2:c.1022A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001321963.2:c.908A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001321964.2:c.908A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001321965.2:c.908A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001321966.2:c.848A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_012472.6:c.1268A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_073525.3:n.1420A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135905.2:n.1409A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135906.2:n.850A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135907.2:n.1096A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135908.2:n.790A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135909.2:n.1306A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135910.2:n.1656A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135911.2:n.1776A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135912.2:n.2335A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135913.2:n.2022A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV002755883	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 27, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002755883

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 27, 2023)

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, SCV002755883.2

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

Description

The c.1268A>G (p.H423R) alteration is located in exon 12 (coding exon 12) of the LRRC6 gene. This alteration results from a A to G substitution at nucleotide position 1268, causing the histidine (H) at amino acid position 423 to be replaced by an arginine (R). Based on insufficient or conflicting 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: Sep 16, 2024

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