NM_001277115.2(DNAH11):c.6518T>C (p.Val2173Ala) AND Primary ciliary dyskinesia

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 23, 2024
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:: RCV004368933.1

Allele description [Variation Report for NM_001277115.2(DNAH11):c.6518T>C (p.Val2173Ala)]

NM_001277115.2(DNAH11):c.6518T>C (p.Val2173Ala)

Gene:

DNAH11:dynein axonemal heavy chain 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p15.3

Genomic location:

Preferred name:

NM_001277115.2(DNAH11):c.6518T>C (p.Val2173Ala)

HGVS:

NC_000007.14:g.21705509T>C
NG_012886.2:g.167295T>C
NM_001277115.2:c.6518T>CMANE SELECT
NM_003777.3:c.6539T>C
NP_001264044.1:p.Val2173Ala
NP_003768.2:p.Val2180Ala
NC_000007.13:g.21745127T>C
NM_001277115.1:c.6518T>C

Protein change:

V2173A

Molecular consequence:

NM_001277115.2:c.6518T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003777.3:c.6539T>C - missense variant - [Sequence Ontology: SO:0001583]

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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HS2ST1 [Panthera tigris]
HS2ST1 [Panthera tigris]
Gene ID:102962516

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004857344	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 23, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004857344

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 23, 2024)

germline

clinical testing

Citation Link

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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

Details of each submission

From Ambry Genetics, SCV004857344.1

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

Description

The c.6518T>C (p.V2173A) alteration is located in exon 39 (coding exon 39) of the DNAH11 gene. This alteration results from a T to C substitution at nucleotide position 6518, causing the valine (V) at amino acid position 2173 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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 16, 2024

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