rs1443936
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000668131.1(CFAP20DC-DT):n.263-100061A>G variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.774 in 152,110 control chromosomes in the GnomAD database, including 46,340 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000668131.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CFAP20DC-DT | XR_002959675.2 | n.1108-100061A>G | intron_variant, non_coding_transcript_variant | ||||
CFAP20DC-DT | XR_007095934.1 | n.352-15889A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CFAP20DC-DT | ENST00000668131.1 | n.263-100061A>G | intron_variant, non_coding_transcript_variant | ||||||
CFAP20DC-DT | ENST00000670321.1 | n.403-100061A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.774 AC: 117699AN: 151992Hom.: 46335 Cov.: 32
GnomAD4 genome ? AF: 0.774 AC: 117751AN: 152110Hom.: 46340 Cov.: 32 AF XY: 0.768 AC XY: 57123AN XY: 74344
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at