NM_001277115.2(DNAH11):c.10955dup (p.Asp3652fs) AND DNAH11-related disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 26, 2023
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV004532168.2

Allele description [Variation Report for NM_001277115.2(DNAH11):c.10955dup (p.Asp3652fs)]

NM_001277115.2(DNAH11):c.10955dup (p.Asp3652fs)

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.10955dup (p.Asp3652fs)

HGVS:

NC_000007.14:g.21852525dup
NG_012886.2:g.314311dup
NM_001277115.2:c.10955dupMANE SELECT
NM_003777.3:c.10976dup
NP_001264044.1:p.Asp3652fs
NP_003768.2:p.Asp3659Glufs
NC_000007.13:g.21892143dup
NM_001277115.1:c.10955dupA

Protein change:

D3652fs

Molecular consequence:

NM_001277115.2:c.10955dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003777.3:c.10976dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: DNAH11-related disorder
Synonyms:: DNAH11-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004752872	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Pathogenic (Dec 26, 2023)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004752872

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Pathogenic
(Dec 26, 2023)

germline

clinical testing

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004752872.2

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

Description

The DNAH11 c.10955dupA variant is predicted to result in a frameshift and premature protein termination (p.Asp3652Glufs*16). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Frameshift variants in DNAH11 are expected to be pathogenic. This variant is interpreted as pathogenic.

#	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: Oct 13, 2024

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