GeneBe

6-38911592-AGGAATGGAAT-AGGAATGGAATGGAAT

Variant names:

Variant summary

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

The NM_001206927.2(DNAH8):​c.9859+19_9859+23dupAATGG variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000713 in 1,402,590 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: 33)
Exomes 𝑓: 7.1e-7 ( 0 hom. )

Consequence

DNAH8
NM_001206927.2 intron

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.587

Publications

0 publications found
Variant links:
Genes affected
DNAH8 (HGNC:2952): (dynein axonemal heavy chain 8) The protein encoded by this gene is a heavy chain of an axonemal dynein involved in sperm and respiratory cilia motility. Axonemal dyneins generate force through hydrolysis of ATP and binding to microtubules. [provided by RefSeq, Jan 2012]
DNAH8-AS1 (HGNC:40188): (DNAH8 antisense RNA 1)

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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
DNAH8NM_001206927.2 linkc.9859+19_9859+23dupAATGG intron_variant Intron 66 of 92 ENST00000327475.11 NP_001193856.1 Q96JB1Q8IU65A0A075B6F3

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
DNAH8ENST00000327475.11 linkc.9859+6_9859+7insGGAAT splice_region_variant, intron_variant Intron 66 of 92 5 NM_001206927.2 ENSP00000333363.7 A0A075B6F3
DNAH8ENST00000359357.7 linkc.9208+6_9208+7insGGAAT splice_region_variant, intron_variant Intron 64 of 90 2 ENSP00000352312.3 Q96JB1-1
DNAH8ENST00000449981.6 linkc.9859+6_9859+7insGGAAT splice_region_variant, intron_variant Intron 65 of 81 5 ENSP00000415331.2 H0Y7V4

Frequencies

GnomAD3 genomes
Cov.:
33
GnomAD2 exomes
AF:
0.00000404
AC:
1
AN:
247718
AF XY:
0.00000747
show subpopulations
Gnomad AFR exome
AF:
0.00
Gnomad AMR exome
AF:
0.00
Gnomad ASJ exome
AF:
0.00
Gnomad EAS exome
AF:
0.00
Gnomad FIN exome
AF:
0.0000466
Gnomad NFE exome
AF:
0.00
Gnomad OTH exome
AF:
0.00
GnomAD4 exome
AF:
7.13e-7
AC:
1
AN:
1402590
Hom.:
0
Cov.:
22
AF XY:
0.00000143
AC XY:
1
AN XY:
701246
show subpopulations
African (AFR)
AF:
0.00
AC:
0
AN:
32266
American (AMR)
AF:
0.00
AC:
0
AN:
44560
Ashkenazi Jewish (ASJ)
AF:
0.00
AC:
0
AN:
25752
East Asian (EAS)
AF:
0.00
AC:
0
AN:
39346
South Asian (SAS)
AF:
0.00
AC:
0
AN:
84848
European-Finnish (FIN)
AF:
0.0000187
AC:
1
AN:
53374
Middle Eastern (MID)
AF:
0.00
AC:
0
AN:
5628
European-Non Finnish (NFE)
AF:
0.00
AC:
0
AN:
1058386
Other (OTH)
AF:
0.00
AC:
0
AN:
58430
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.425
Heterozygous variant carriers
0
0
1
1
2
2
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
GnomAD4 genome
Cov.:
33

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
PhyloP100
0.59

Splicing

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

Publications

Other links and lift over

dbSNP: rs878854276; hg19: chr6-38879368; API