ENST00000654303.1:n.25_32delGGGGCTCC
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BS1BS2
The ENST00000654303.1(CA3-AS1):n.25_32delGGGGCTCC variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00266 in 232,476 control chromosomes in the GnomAD database, including 15 homozygotes. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0018 ( 6 hom., cov: 0)
Exomes 𝑓: 0.0042 ( 9 hom. )
Consequence
CA3-AS1
ENST00000654303.1 non_coding_transcript_exon
ENST00000654303.1 non_coding_transcript_exon
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 3.28
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -8 ACMG points.
BS1
Variant frequency is greater than expected in population sas. gnomad4 allele frequency = 0.00177 (259/146666) while in subpopulation SAS AF= 0.0242 (113/4676). AF 95% confidence interval is 0.0206. There are 6 homozygotes in gnomad4. There are 158 alleles in male gnomad4 subpopulation. Median coverage is 0. This position pass quality control queck.
BS2
High Homozygotes in GnomAd4 at 6 gene
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CA3-AS1 | ENST00000654303.1 | n.25_32delGGGGCTCC | non_coding_transcript_exon_variant | Exon 1 of 3 | ||||||
CA3-AS1 | ENST00000517697.6 | n.193+451_193+458delGGGGCTCC | intron_variant | Intron 1 of 2 | 4 | |||||
CA3-AS1 | ENST00000521761.6 | n.334+805_334+812delGGGGCTCC | intron_variant | Intron 1 of 2 | 4 |
Frequencies
GnomAD3 genomes AF: 0.00176 AC: 258AN: 146580Hom.: 6 Cov.: 0
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GnomAD4 exome AF: 0.00418 AC: 359AN: 85810Hom.: 9 AF XY: 0.00630 AC XY: 296AN XY: 47016
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GnomAD4 genome AF: 0.00177 AC: 259AN: 146666Hom.: 6 Cov.: 0 AF XY: 0.00221 AC XY: 158AN XY: 71514
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at