rs556311734
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_000067.3(CA2):c.-43G>A variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000144 in 1,387,340 control chromosomes in the GnomAD database, with no homozygous occurrence. 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
NM_000067.3 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CA2 | NM_000067.3 | c.-43G>A | 5_prime_UTR_variant | Exon 1 of 7 | ENST00000285379.10 | NP_000058.1 | ||
CA2 | NM_001293675.2 | c.-227G>A | 5_prime_UTR_variant | Exon 1 of 6 | NP_001280604.1 | |||
CA3-AS1 | NR_121630.1 | n.334+543C>T | intron_variant | Intron 1 of 2 | ||||
CA3-AS1 | NR_121631.1 | n.106+189C>T | intron_variant | Intron 1 of 2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000144 AC: 2AN: 1387340Hom.: 0 Cov.: 31 AF XY: 0.00000146 AC XY: 1AN XY: 685024
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.