NM_012472.6(DNAAF11):c.1294G>T (p.Val432Phe) AND Primary ciliary dyskinesia 19

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 14, 2018
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:: RCV000688573.7

Allele description [Variation Report for NM_012472.6(DNAAF11):c.1294G>T (p.Val432Phe)]

NM_012472.6(DNAAF11):c.1294G>T (p.Val432Phe)

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.1294G>T (p.Val432Phe)

HGVS:

NC_000008.11:g.132572413C>A
NG_033068.1:g.108203G>T
NM_001321961.2:c.1234G>T
NM_001321962.2:c.1048G>T
NM_001321963.2:c.934G>T
NM_001321964.2:c.934G>T
NM_001321965.2:c.934G>T
NM_001321966.2:c.874G>T
NM_012472.6:c.1294G>TMANE SELECT
NP_001308890.1:p.Val412Phe
NP_001308891.1:p.Val350Phe
NP_001308892.1:p.Val312Phe
NP_001308893.1:p.Val312Phe
NP_001308894.1:p.Val312Phe
NP_001308895.1:p.Val292Phe
NP_036604.2:p.Val432Phe
NC_000008.10:g.133584661C>A
NM_012472.4:c.1294G>T
NR_073525.3:n.1446G>T
NR_135905.2:n.1435G>T
NR_135906.2:n.876G>T
NR_135907.2:n.1122G>T
NR_135908.2:n.816G>T
NR_135909.2:n.1332G>T
NR_135910.2:n.1682G>T
NR_135911.2:n.1802G>T
NR_135912.2:n.2361G>T
NR_135913.2:n.2048G>T

Protein change:

V292F

Links:

dbSNP: rs770349365

NCBI 1000 Genomes Browser:

rs770349365

Molecular consequence:

NM_001321961.2:c.1234G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001321962.2:c.1048G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001321963.2:c.934G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001321964.2:c.934G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001321965.2:c.934G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001321966.2:c.874G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_012472.6:c.1294G>T - missense variant - [Sequence Ontology: SO:0001583]
NR_073525.3:n.1446G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135905.2:n.1435G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135906.2:n.876G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135907.2:n.1122G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135908.2:n.816G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135909.2:n.1332G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135910.2:n.1682G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135911.2:n.1802G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135912.2:n.2361G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135913.2:n.2048G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Primary ciliary dyskinesia 19
Synonyms:: CILIARY DYSKINESIA, PRIMARY, 19, WITH OR WITHOUT SITUS INVERSUS
Identifiers:: MONDO: MONDO:0013979; MedGen: C3543826; Orphanet: 244; OMIM: 614935

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000816191	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Feb 14, 2018)	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

SCV000816191

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Feb 14, 2018)

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, SCV000816191.4

#	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 valine with phenylalanine at codon 432 of the LRRC6 protein (p.Val432Phe). The valine residue is moderately conserved and there is a small physicochemical difference between valine and phenylalanine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with LRRC6-related disease. This variant is present in population databases (rs770349365, ExAC 0.001%).

#	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

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