rs143472136
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Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 2P and 13B. PM2BP4_StrongBP6_Very_StrongBP7
The NM_001206927.2(DNAH8):c.13083G>A(p.Pro4361=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000918 in 1,600,836 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Genomes: 𝑓 0.000053 ( 0 hom., cov: 33)
Exomes 𝑓: 0.000096 ( 0 hom. )
Consequence
DNAH8
NM_001206927.2 synonymous
NM_001206927.2 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: -2.32
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]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -11 ACMG points.
PM2
?
Very rare variant in population databases, with high coverage;
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.76).
BP6
?
Variant 6-38990041-G-A is Benign according to our data. Variant chr6-38990041-G-A is described in ClinVar as [Likely_benign]. Clinvar id is 525581.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BP7
?
Synonymous conserved (PhyloP=-2.32 with no splicing effect.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAH8 | NM_001206927.2 | c.13083G>A | p.Pro4361= | synonymous_variant | 88/93 | ENST00000327475.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAH8 | ENST00000327475.11 | c.13083G>A | p.Pro4361= | synonymous_variant | 88/93 | 5 | NM_001206927.2 | P2 | |
DNAH8 | ENST00000359357.7 | c.12432G>A | p.Pro4144= | synonymous_variant | 86/91 | 2 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000526 AC: 8AN: 152052Hom.: 0 Cov.: 33
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GnomAD3 exomes AF: 0.0000442 AC: 11AN: 248726Hom.: 0 AF XY: 0.0000521 AC XY: 7AN XY: 134344
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GnomAD4 exome AF: 0.0000959 AC: 139AN: 1448784Hom.: 0 Cov.: 27 AF XY: 0.0000998 AC XY: 72AN XY: 721364
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GnomAD4 genome ? AF: 0.0000526 AC: 8AN: 152052Hom.: 0 Cov.: 33 AF XY: 0.0000539 AC XY: 4AN XY: 74252
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ClinVar
Significance: Likely benign
Submissions summary: Benign:2
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
Primary ciliary dyskinesia Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 25, 2024 | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Jan 01, 2023 | DNAH8: BP4, BP7 - |
Computational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at