NM_001277115.2(DNAH11):c.2293C>T (p.Leu765Phe) AND Primary ciliary dyskinesia

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 7, 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:: RCV004368926.1

Allele description [Variation Report for NM_001277115.2(DNAH11):c.2293C>T (p.Leu765Phe)]

NM_001277115.2(DNAH11):c.2293C>T (p.Leu765Phe)

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.2293C>T (p.Leu765Phe)

HGVS:

NC_000007.14:g.21591203C>T
NG_012886.2:g.52989C>T
NM_001277115.2:c.2293C>TMANE SELECT
NM_003777.3:c.2293C>T
NP_001264044.1:p.Leu765Phe
NP_003768.2:p.Leu765Phe
NC_000007.13:g.21630821C>T
NM_001277115.1:c.2293C>T

Protein change:

L765F

Molecular consequence:

NM_001277115.2:c.2293C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_003777.3:c.2293C>T - 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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PREDICTED: Homo sapiens transcription factor 12 (TCF12), transcript variant X13,...
PREDICTED: Homo sapiens transcription factor 12 (TCF12), transcript variant X13, mRNA
gi|2462545632|ref|XM_054378681.1|

Nucleotide
transcription factor 12 isoform X1 [Homo sapiens]
transcription factor 12 isoform X1 [Homo sapiens]
gi|2462545609|ref|XP_054234644.1|

Protein
Arthrobacter sp. A5AGM partial 16S rRNA gene, strain A5AGM
Arthrobacter sp. A5AGM partial 16S rRNA gene, strain A5AGM
gi|225632760|emb|FN293297.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004858275	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 7, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004858275

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 7, 2023)

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, SCV004858275.1

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

Description

The c.2293C>T (p.L765F) alteration is located in exon 14 (coding exon 14) of the DNAH11 gene. This alteration results from a C to T substitution at nucleotide position 2293, causing the leucine (L) at amino acid position 765 to be replaced by a phenylalanine (F). 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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