NM_012472.6(DNAAF11):c.1138A>C (p.Lys380Gln) AND Primary ciliary dyskinesia

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 30, 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:: RCV003377700.2

Allele description [Variation Report for NM_012472.6(DNAAF11):c.1138A>C (p.Lys380Gln)]

NM_012472.6(DNAAF11):c.1138A>C (p.Lys380Gln)

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.1138A>C (p.Lys380Gln)

HGVS:

NC_000008.11:g.132610168T>G
NG_033068.1:g.70450A>C
NG_033068.2:g.97745A>C
NM_001321961.2:c.1078A>C
NM_001321962.2:c.892A>C
NM_001321963.2:c.778A>C
NM_001321964.2:c.778A>C
NM_001321965.2:c.778A>C
NM_001321966.2:c.718A>C
NM_012472.6:c.1138A>CMANE SELECT
NP_001308890.1:p.Lys360Gln
NP_001308891.1:p.Lys298Gln
NP_001308892.1:p.Lys260Gln
NP_001308893.1:p.Lys260Gln
NP_001308894.1:p.Lys260Gln
NP_001308895.1:p.Lys240Gln
NP_036604.2:p.Lys380Gln
NC_000008.10:g.133622414T>G
NM_012472.3:c.1138A>C
NR_073525.3:n.1181A>C
NR_135905.2:n.1279A>C
NR_135906.2:n.720A>C
NR_135907.2:n.966A>C
NR_135908.2:n.660A>C
NR_135909.2:n.1176A>C
NR_135910.2:n.1526A>C
NR_135911.2:n.1646A>C
NR_135912.2:n.2205A>C
NR_135913.2:n.1892A>C

Protein change:

K240Q

Molecular consequence:

NM_001321961.2:c.1078A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001321962.2:c.892A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001321963.2:c.778A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001321964.2:c.778A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001321965.2:c.778A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001321966.2:c.718A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_012472.6:c.1138A>C - missense variant - [Sequence Ontology: SO:0001583]
NR_073525.3:n.1181A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135905.2:n.1279A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135906.2:n.720A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135907.2:n.966A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135908.2:n.660A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135909.2:n.1176A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135910.2:n.1526A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135911.2:n.1646A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135912.2:n.2205A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135913.2:n.1892A>C - 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

Recent activity

Clear Turn Off Turn On

Cryptosporidium parvum strain IOWA-ATCC chromosome 1
Cryptosporidium parvum strain IOWA-ATCC chromosome 1
gi|1928848249|gb|CP044422.1|

Nucleotide

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
SCV004098467	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 30, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004098467

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 30, 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, SCV004098467.2

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

Description

The p.K380Q variant (also known as c.1138A>C), located in coding exon 10 of the LRRC6 gene, results from an A to C substitution at nucleotide position 1138. The lysine at codon 380 is replaced by glutamine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, 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 29, 2024

ClinVar

Relating variation to medicine