rs16901979
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000642100.1(CASC19):n.418-33538G>T 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 0.157 in 152,144 control chromosomes in the GnomAD database, including 4,294 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
ENST00000642100.1 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 |
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Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CASC19 | ENST00000642100.1 | n.418-33538G>T | intron_variant, non_coding_transcript_variant | ||||||
PCAT1 | ENST00000645463.1 | n.855+106053C>A | intron_variant, non_coding_transcript_variant | ||||||
PCAT1 | ENST00000646670.1 | n.1064+98897C>A | intron_variant, non_coding_transcript_variant | ||||||
PCAT1 | ENST00000647190.2 | n.1191+63371C>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.157 AC: 23857AN: 152026Hom.: 4275 Cov.: 32
GnomAD4 genome AF: 0.157 AC: 23926AN: 152144Hom.: 4294 Cov.: 32 AF XY: 0.155 AC XY: 11508AN XY: 74384
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at