NM_018139.3(DNAAF2):c.1156_1159dup (p.Glu387fs) AND Primary ciliary dyskinesia 10

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 3, 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:: RCV001782957.5

Allele description [Variation Report for NM_018139.3(DNAAF2):c.1156_1159dup (p.Glu387fs)]

NM_018139.3(DNAAF2):c.1156_1159dup (p.Glu387fs)

Genes:

LOC130055542:ATAC-STARR-seq lymphoblastoid silent region 5699 [Gene]
DNAAF2:dynein axonemal assembly factor 2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

14q21.3

Genomic location:

Preferred name:

NM_018139.3(DNAAF2):c.1156_1159dup (p.Glu387fs)

HGVS:

NC_000014.9:g.49633992_49633995dup
NG_013070.1:g.6237_6240dup
NM_001083908.2:c.1156_1159dup
NM_018139.3:c.1156_1159dupMANE SELECT
NP_001077377.1:p.Glu387fs
NP_060609.2:p.Glu387fs
NC_000014.8:g.50100708_50100709insCCCC
NC_000014.8:g.50100710_50100713dup
NM_018139.2:c.1156_1159dup
NM_018139.2:c.1156_1159dupGGGG

Protein change:

E387fs

Links:

dbSNP: rs902156961

NCBI 1000 Genomes Browser:

rs902156961

Molecular consequence:

NM_001083908.2:c.1156_1159dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_018139.3:c.1156_1159dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Primary ciliary dyskinesia 10
Synonyms:: CILIARY DYSKINESIA, PRIMARY, 10, WITH OR WITHOUT SITUS INVERSUS
Identifiers:: MONDO: MONDO:0012918; MedGen: C2675867; Orphanet: 244; OMIM: 612518

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002021702	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Feb 3, 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

SCV002021702

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Feb 3, 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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Revvity Omics, Revvity, SCV002021702.3

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

#	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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