rs1799750
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Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1
The NR_038390.1(WTAPP1):n.682+1644del variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.50 ( 18895 hom., cov: 0)
Consequence
WTAPP1
NR_038390.1 intron, non_coding_transcript
NR_038390.1 intron, non_coding_transcript
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.0330
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -8 ACMG points.
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.526 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
WTAPP1 | NR_038390.1 | n.682+1644del | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
WTAPP1 | ENST00000371455.7 | n.423+1644del | intron_variant, non_coding_transcript_variant | 4 | ||||||
WTAPP1 | ENST00000525739.6 | n.682+1644del | intron_variant, non_coding_transcript_variant | 2 | ||||||
WTAPP1 | ENST00000544704.1 | n.443+1644del | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes AF: 0.496 AC: 75293AN: 151928Hom.: 18872 Cov.: 0
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.496 AC: 75350AN: 152046Hom.: 18895 Cov.: 0 AF XY: 0.487 AC XY: 36160AN XY: 74302
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ClinVar
Not reported inComputational scores
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at