rs77895131
Variant names:
Your query was ambiguous. Multiple possible variants found:
- chr8-85463769-AGGAGCCCCGGAGCCCCGGAGCCCC-A
- chr8-85463769-AGGAGCCCCGGAGCCCCGGAGCCCC-AGGAGCCCC
- chr8-85463769-AGGAGCCCCGGAGCCCCGGAGCCCC-AGGAGCCCCGGAGCCCC
- chr8-85463769-AGGAGCCCCGGAGCCCCGGAGCCCC-AGGAGCCCCGGAGCCCCGGAGCCCCGGAGCCCC
- chr8-85463769-AGGAGCCCCGGAGCCCCGGAGCCCC-AGGAGCCCCGGAGCCCCGGAGCCCCGGAGCCCCGGAGCCCC
- chr8-85463769-AGGAGCCCCGGAGCCCCGGAGCCCC-AGGAGCCCCGGAGCCCCGGAGCCCCGGAGCCCCGGAGCCCCGGAGCCCC
- chr8-85463769-AGGAGCCCCGGAGCCCCGGAGCCCC-AGGAGCCCCGGAGCCCCGGAGCCCCGGAGCCCCGGAGCCCCGGAGCCCCGGAGCCCC
- chr8-85463769-AGGAGCCCCGGAGCCCCGGAGCCCC-AGGAGCCCCGGAGCCCCGGAGCCCCGGAGCCCCGGAGCCCCGGAGCCCCGGAGCCCCGGAGCCCC
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The ENST00000654303.1(CA3-AS1):n.9_32delGGGGCTCCGGGGCTCCGGGGCTCC 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 0.0000387 in 232,482 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.000027 ( 0 hom., cov: 0)
Exomes 𝑓: 0.000058 ( 0 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 Uncertain_significance. Variant got 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CA3-AS1 | NR_121630.1 | n.334+789_334+812delGGGGCTCCGGGGCTCCGGGGCTCC | intron_variant | Intron 1 of 2 | ||||
CA3-AS1 | NR_121631.1 | n.106+435_106+458delGGGGCTCCGGGGCTCCGGGGCTCC | intron_variant | Intron 1 of 2 | ||||
CA2 | NM_000067.3 | c.-312_-289delGGAGCCCCGGAGCCCCGGAGCCCC | upstream_gene_variant | ENST00000285379.10 | NP_000058.1 | |||
CA2 | NM_001293675.2 | c.-496_-473delGGAGCCCCGGAGCCCCGGAGCCCC | upstream_gene_variant | NP_001280604.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000273 AC: 4AN: 146586Hom.: 0 Cov.: 0
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GnomAD4 exome AF: 0.0000583 AC: 5AN: 85810Hom.: 0 AF XY: 0.0000851 AC XY: 4AN XY: 47016
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GnomAD4 genome AF: 0.0000273 AC: 4AN: 146672Hom.: 0 Cov.: 0 AF XY: 0.0000280 AC XY: 2AN XY: 71516
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Find out detailed SpliceAI scores and Pangolin per-transcript scores at