NM_001277115.2(DNAH11):c.6468+6dup AND Primary ciliary dyskinesia

Germline classification:: Benign (1 submission)
Last evaluated:: May 13, 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:: RCV003881541.2

Allele description [Variation Report for NM_001277115.2(DNAH11):c.6468+6dup]

NM_001277115.2(DNAH11):c.6468+6dup

Gene:

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.6468+6dup

HGVS:

NC_000007.14:g.21704634dup
NG_012886.2:g.166420dup
NM_001277115.2:c.6468+6dupMANE SELECT
NC_000007.13:g.21744248_21744249insA
NC_000007.13:g.21744252dup

Molecular consequence:

NM_001277115.2:c.6468+6dup - intron variant - [Sequence Ontology: SO:0001627]

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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Saccharomyces cerevisiae S288C Mac1p (MAC1), partial mRNA
Saccharomyces cerevisiae S288C Mac1p (MAC1), partial mRNA
gi|296147139|ref|NM_001182517.1|

Nucleotide
RpoD, partial [Aeromonas sp. SHGW-48]
RpoD, partial [Aeromonas sp. SHGW-48]
gi|944378090|gb|ALL73513.1|

Protein
Homo sapiens BTB domain containing 7 (BTBD7), transcript variant 2, mRNA
Homo sapiens BTB domain containing 7 (BTBD7), transcript variant 2, mRNA
gi|1675116704|ref|NM_018167.5|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004685421	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (May 13, 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

SCV004685421

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(May 13, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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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, SCV004685421.1

#	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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