NM_001277115.2(DNAH11):c.13527_13547dup (p.Ala4516_Ter4517insValAlaLeuLeuLeuGluAla) AND Primary ciliary dyskinesia

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 21, 2019
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:: RCV001230078.7

Allele description [Variation Report for NM_001277115.2(DNAH11):c.13527_13547dup (p.Ala4516_Ter4517insValAlaLeuLeuLeuGluAla)]

NM_001277115.2(DNAH11):c.13527_13547dup (p.Ala4516_Ter4517insValAlaLeuLeuLeuGluAla)

Genes:

CDCA7L:cell division cycle associated 7 like [Gene - OMIM - HGNC]
DNAH11:dynein axonemal heavy chain 11 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

7p15.3

Genomic location:

Preferred name:

NM_001277115.2(DNAH11):c.13527_13547dup (p.Ala4516_Ter4517insValAlaLeuLeuLeuGluAla)

HGVS:

NC_000007.14:g.21901230_21901250dup
NG_012886.2:g.363016_363036dup
NM_001127370.3:c.*1072_*1092dup
NM_001127371.3:c.*1072_*1092dup
NM_001277115.2:c.13527_13547dupMANE SELECT
NM_018719.5:c.*1072_*1092dupMANE SELECT
NP_001264044.1:p.Ala4516_Ter4517insValAlaLeuLeuLeuGluAla
NC_000007.13:g.21940847_21940848insAGTGGCTCTGCTTCTAGAAGC
NC_000007.13:g.21940848_21940868dup
NM_001277115.1:c.13527_13547dup

Links:

dbSNP: rs1784815114

NCBI 1000 Genomes Browser:

rs1784815114

Molecular consequence:

NM_001127370.3:c.*1072_*1092dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001127371.3:c.*1072_*1092dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_018719.5:c.*1072_*1092dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001277115.2:c.13527_13547dup - inframe_insertion - [Sequence Ontology: SO:0001821]

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
SCV001402547	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 21, 2019)	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

SCV001402547

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 21, 2019)

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, SCV001402547.5

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

Description

Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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. This variant has not been reported in the literature in individuals with DNAH11-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change disrupts the translational stop signal of the DNAH11 mRNA. It is expected to extend the length of the DNAH11 protein by 7 additional amino acid residues.

#	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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