NM_012472.6(DNAAF11):c.48_49insCTTTGT (p.Asn16_Asp17insLeuCys) AND Primary ciliary dyskinesia 19

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 13, 2022
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:: RCV002863026.3

Allele description [Variation Report for NM_012472.6(DNAAF11):c.48_49insCTTTGT (p.Asn16_Asp17insLeuCys)]

NM_012472.6(DNAAF11):c.48_49insCTTTGT (p.Asn16_Asp17insLeuCys)

Gene:

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

Variant type:

Insertion

Cytogenetic location:

8q24.22

Genomic location:

Preferred name:

NM_012472.6(DNAAF11):c.48_49insCTTTGT (p.Asn16_Asp17insLeuCys)

HGVS:

NC_000008.11:g.132661589_132661590insACAAAG
NG_033068.1:g.19028_19029insCTTTGT
NG_033068.2:g.46323_46324insCTTTGT
NM_001321961.2:c.48_49insCTTTGT
NM_001321962.2:c.10+13894_10+13895insCTTTGT
NM_001321963.2:c.-313_-312insCTTTGT
NM_001321964.2:c.-313_-312insCTTTGT
NM_001321965.2:c.-626_-625insCTTTGT
NM_001321966.2:c.-313_-312insCTTTGT
NM_012472.6:c.48_49insCTTTGTMANE SELECT
NP_001308890.1:p.Asn16_Asp17insLeuCys
NP_036604.2:p.Asn16_Asp17insLeuCys
NC_000008.10:g.133673835_133673836insACAAAG
NR_073525.3:n.100_101insCTTTGT
NR_135905.2:n.100_101insCTTTGT
NR_135907.2:n.100_101insCTTTGT
NR_135909.2:n.310_311insCTTTGT
NR_135910.2:n.660_661insCTTTGT
NR_135912.2:n.1026_1027insCTTTGT
NR_135913.2:n.1026_1027insCTTTGT

Molecular consequence:

NM_001321963.2:c.-313_-312insCTTTGT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001321964.2:c.-313_-312insCTTTGT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001321965.2:c.-626_-625insCTTTGT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001321966.2:c.-313_-312insCTTTGT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001321961.2:c.48_49insCTTTGT - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_012472.6:c.48_49insCTTTGT - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001321962.2:c.10+13894_10+13895insCTTTGT - intron variant - [Sequence Ontology: SO:0001627]
NR_073525.3:n.100_101insCTTTGT - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135905.2:n.100_101insCTTTGT - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135907.2:n.100_101insCTTTGT - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135909.2:n.310_311insCTTTGT - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135910.2:n.660_661insCTTTGT - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135912.2:n.1026_1027insCTTTGT - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135913.2:n.1026_1027insCTTTGT - 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
SCV003225088	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 13, 2022)	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

SCV003225088

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 13, 2022)

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, SCV003225088.2

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

Description

This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant, c.48_49insCTTTGT, results in the insertion of 2 amino acid(s) of the LRRC6 protein (p.Asn16_Asp17insLeuCys), but otherwise preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with LRRC6-related conditions. 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: Sep 29, 2024

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