GeneBe

7-21619936-A-ATTACT

Variant names:

Variant summary

Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2

The NM_001277115.2(DNAH11):​c.4378-17_4378-16insCTTTA variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000706 in 1,417,378 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: not found (cov: 0)
Exomes 𝑓: 7.1e-7 ( 0 hom. )

Consequence

DNAH11
NM_001277115.2 intron

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.774

Publications

0 publications found
Variant links:
Genes affected
DNAH11 (HGNC:2942): (dynein axonemal heavy chain 11) This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. [provided by RefSeq, Mar 2013]
DNAH11 Gene-Disease associations (from GenCC):
  • primary ciliary dyskinesia 7
    Inheritance: AR Classification: DEFINITIVE, STRONG Submitted by: PanelApp Australia, Laboratory for Molecular Medicine, Labcorp Genetics (formerly Invitae), ClinGen
  • primary ciliary dyskinesia
    Inheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet

Genome browser will be placed here

ACMG classification

Classification was made for transcript

Our verdict: Uncertain_significance. The variant received 2 ACMG points.

PM2
Very rare variant in population databases, with high coverage;

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
DNAH11NM_001277115.2 linkc.4378-17_4378-16insCTTTA intron_variant Intron 24 of 81 ENST00000409508.8 NP_001264044.1 Q96DT5Q96NT7H9NAJ8H9NAJ7

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
DNAH11ENST00000409508.8 linkc.4378-20_4378-19insTTACT intron_variant Intron 24 of 81 5 NM_001277115.2 ENSP00000475939.1 Q96DT5
DNAH11ENST00000465593.1 linkn.404-20_404-19insTTACT intron_variant Intron 2 of 3 2

Frequencies

GnomAD3 genomes
Cov.:
0
GnomAD4 exome
AF:
7.06e-7
AC:
1
AN:
1417378
Hom.:
0
Cov.:
30
AF XY:
0.00000142
AC XY:
1
AN XY:
704706
show subpopulations
African (AFR)
AF:
0.00
AC:
0
AN:
31008
American (AMR)
AF:
0.00
AC:
0
AN:
36078
Ashkenazi Jewish (ASJ)
AF:
0.00
AC:
0
AN:
25250
East Asian (EAS)
AF:
0.00
AC:
0
AN:
38160
South Asian (SAS)
AF:
0.00
AC:
0
AN:
77646
European-Finnish (FIN)
AF:
0.00
AC:
0
AN:
53176
Middle Eastern (MID)
AF:
0.000176
AC:
1
AN:
5678
European-Non Finnish (NFE)
AF:
0.00
AC:
0
AN:
1091526
Other (OTH)
AF:
0.00
AC:
0
AN:
58856
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.575
Heterozygous variant carriers
0
0
1
1
2
2
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance

Age Distribution

Exome Het
Variant carriers
0
2
4
6
8
10
<30
30-35
35-40
40-45
45-50
50-55
55-60
60-65
65-70
70-75
75-80
>80
Age
GnomAD4 genome
Cov.:
0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
PhyloP100
0.77

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

Other links and lift over

dbSNP: rs57952953; hg19: chr7-21659554; API