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
CA2 (HGNC:1373): (carbonic anhydrase 2) The protein encoded by this gene is one of several isozymes of carbonic anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
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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
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CA3-AS1 | NR_121630.1 | n.334+805_334+812delGGGGCTCC | intron_variant | Intron 1 of 2 | ||||
CA3-AS1 | NR_121631.1 | n.106+451_106+458delGGGGCTCC | intron_variant | Intron 1 of 2 | ||||
CA2 | NM_000067.3 | c.-312_-305delGGAGCCCC | upstream_gene_variant | ENST00000285379.10 | NP_000058.1 | |||
CA2 | NM_001293675.2 | c.-496_-489delGGAGCCCC | upstream_gene_variant | NP_001280604.1 |
Ensembl
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