rs57677078
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004056.6(CA8):c.*36-13_*36-9delTTTTT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000183 in 109,306 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 0.000018 ( 0 hom., cov: 26)
Failed GnomAD Quality Control
Consequence
CA8
NM_004056.6 intron
NM_004056.6 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.495
Genes affected
CA8 (HGNC:1382): (carbonic anhydrase 8) The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide). The gene product continues to carry a carbonic anhydrase designation based on clear sequence identity to other members of the carbonic anhydrase gene family. The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this acatalytic form. Mutations in this gene are associated with cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3). Polymorphisms in this gene are associated with osteoporosis, and overexpression of this gene in osteosarcoma cells suggests an oncogenic role. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
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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 |
---|---|---|---|---|---|---|---|---|
CA8 | NM_004056.6 | c.*36-13_*36-9delTTTTT | intron_variant | Intron 8 of 8 | ENST00000317995.5 | NP_004047.3 | ||
CA8 | NM_001321839.2 | c.*36-13_*36-9delTTTTT | intron_variant | Intron 7 of 7 | NP_001308768.1 | |||
CA8 | NR_135821.2 | n.1212-13_1212-9delTTTTT | intron_variant | Intron 9 of 9 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000183 AC: 2AN: 109306Hom.: 0 Cov.: 26
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.0000183 AC: 2AN: 109306Hom.: 0 Cov.: 26 AF XY: 0.0000191 AC XY: 1AN XY: 52246
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Find out detailed SpliceAI scores and Pangolin per-transcript scores at