rs57914590
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_ModerateBP6_ModerateBP7BS1BS2
The NM_130810.4(DNAAF4):c.384C>T(p.Tyr128=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000764 in 1,613,992 control chromosomes in the GnomAD database, including 8 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.0038 ( 4 hom., cov: 31)
Exomes 𝑓: 0.00044 ( 4 hom. )
Consequence
DNAAF4
NM_130810.4 synonymous
NM_130810.4 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.108
Genes affected
DNAAF4 (HGNC:21493): (dynein axonemal assembly factor 4) This gene encodes a tetratricopeptide repeat domain-containing protein. The encoded protein interacts with estrogen receptors and the heat shock proteins, Hsp70 and Hsp90. An homologous protein in rat has been shown to function in neuronal migration in the developing neocortex. A chromosomal translocation involving this gene is associated with a susceptibility to developmental dyslexia. Mutations in this gene are associated with deficits in reading and spelling. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream cell cycle progression 1 (CCPG1) gene. [provided by RefSeq, Mar 2011]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -13 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.35).
BP6
?
Variant 15-55491144-G-A is Benign according to our data. Variant chr15-55491144-G-A is described in ClinVar as [Benign]. Clinvar id is 241832.Status of the report is criteria_provided_single_submitter, 1 stars.
BP7
?
Synonymous conserved (PhyloP=-0.108 with no splicing effect.
BS1
?
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.00384 (585/152240) while in subpopulation AFR AF= 0.0135 (560/41530). AF 95% confidence interval is 0.0126. There are 4 homozygotes in gnomad4. There are 278 alleles in male gnomad4 subpopulation. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd at 4 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DNAAF4 | NM_130810.4 | c.384C>T | p.Tyr128= | synonymous_variant | 4/10 | ENST00000321149.7 | |
DNAAF4-CCPG1 | NR_037923.1 | n.639C>T | non_coding_transcript_exon_variant | 3/16 | |||
DNAAF4 | NM_001033560.2 | c.384C>T | p.Tyr128= | synonymous_variant | 4/9 | ||
DNAAF4 | NM_001033559.3 | c.384C>T | p.Tyr128= | synonymous_variant | 4/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DNAAF4 | ENST00000321149.7 | c.384C>T | p.Tyr128= | synonymous_variant | 4/10 | 1 | NM_130810.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00385 AC: 585AN: 152122Hom.: 4 Cov.: 31
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GnomAD3 exomes AF: 0.00101 AC: 255AN: 251372Hom.: 3 AF XY: 0.000685 AC XY: 93AN XY: 135862
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GnomAD4 exome AF: 0.000443 AC: 648AN: 1461752Hom.: 4 Cov.: 30 AF XY: 0.000386 AC XY: 281AN XY: 727172
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 13, 2024 | - - |
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