GeneBe

rs71600031

Variant names:

Variant summary

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

The NM_001369.3(DNAH5):​c.2578-16_2578-7delTTTTTTTTTT variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000739 in 1,218,492 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: 0.0000074 ( 0 hom. )

Consequence

DNAH5
NM_001369.3 splice_region, intron

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 1.81

Publications

2 publications found
Variant links:
Genes affected
DNAH5 (HGNC:2950): (dynein axonemal heavy chain 5) This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]
DNAH5 Gene-Disease associations (from GenCC):
  • primary ciliary dyskinesia 3
    Inheritance: AR Classification: DEFINITIVE, STRONG Submitted by: PanelApp Australia, Labcorp Genetics (formerly Invitae), G2P, 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 0 ACMG points.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
DNAH5NM_001369.3 linkc.2578-16_2578-7delTTTTTTTTTT splice_region_variant, intron_variant Intron 17 of 78 ENST00000265104.5 NP_001360.1

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
DNAH5ENST00000265104.5 linkc.2578-16_2578-7delTTTTTTTTTT splice_region_variant, intron_variant Intron 17 of 78 1 NM_001369.3 ENSP00000265104.4
DNAH5ENST00000681290.1 linkc.2533-16_2533-7delTTTTTTTTTT splice_region_variant, intron_variant Intron 17 of 78 ENSP00000505288.1
ENSG00000251423ENST00000503244.2 linkn.254-10453_254-10444delAAAAAAAAAA intron_variant Intron 1 of 2 4
ENSG00000251423ENST00000637153.1 linkn.214-10453_214-10444delAAAAAAAAAA intron_variant Intron 1 of 2 5

Frequencies

GnomAD3 genomes
Cov.:
0
GnomAD4 exome
AF:
0.00000739
AC:
9
AN:
1218492
Hom.:
0
AF XY:
0.00000664
AC XY:
4
AN XY:
602484
show subpopulations
African (AFR)
AF:
0.00
AC:
0
AN:
26790
American (AMR)
AF:
0.000255
AC:
7
AN:
27426
Ashkenazi Jewish (ASJ)
AF:
0.00
AC:
0
AN:
20886
East Asian (EAS)
AF:
0.0000303
AC:
1
AN:
32998
South Asian (SAS)
AF:
0.00
AC:
0
AN:
65544
European-Finnish (FIN)
AF:
0.00
AC:
0
AN:
31368
Middle Eastern (MID)
AF:
0.00
AC:
0
AN:
3550
European-Non Finnish (NFE)
AF:
0.00000104
AC:
1
AN:
959020
Other (OTH)
AF:
0.00
AC:
0
AN:
50910
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.525
Heterozygous variant carriers
0
1
1
2
2
3
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
GnomAD4 genome
Cov.:
0
Alfa
AF:
0.00
Hom.:
15

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
PhyloP100
1.8

Splicing

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

Publications

Other links and lift over

dbSNP: rs71600031; hg19: chr5-13886244; API