NM_001277115.2(DNAH11):c.3000+3A>G AND Primary ciliary dyskinesia 7

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 23, 2024
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:: RCV003992595.1

Allele description [Variation Report for NM_001277115.2(DNAH11):c.3000+3A>G]

NM_001277115.2(DNAH11):c.3000+3A>G

Genes:

LOC126859961:BRD4-independent group 4 enhancer GRCh37_chr7:21639662-21640861 [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.3000+3A>G

HGVS:

NC_000007.14:g.21600122A>G
NG_012886.2:g.61908A>G
NM_001277115.2:c.3000+3A>GMANE SELECT
NC_000007.13:g.21639740A>G

Links:

dbSNP: rs781625159

NCBI 1000 Genomes Browser:

rs781625159

Molecular consequence:

NM_001277115.2:c.3000+3A>G - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Name:: Primary ciliary dyskinesia 7
Synonyms:: CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS
Identifiers:: MONDO: MONDO:0012748; MedGen: C2678473; Orphanet: 244; OMIM: 611884

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004812059	Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN	no assertion criteria provided	Uncertain significance (Jan 23, 2024)	maternal	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004812059

Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN

no assertion criteria provided

Uncertain significance
(Jan 23, 2024)

maternal

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV004812059.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	yes	not provided	Blood	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine