X-15764583-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_007220.4(CA5B):c.148C>A(p.Pro50Thr) variant causes a missense change. The variant allele was found at a frequency of 0.000000913 in 1,095,140 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P50A) has been classified as Uncertain significance.
Frequency
Consequence
NM_007220.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CA5B | NM_007220.4 | c.148C>A | p.Pro50Thr | missense_variant | Exon 3 of 8 | ENST00000318636.8 | NP_009151.1 | |
CA5BP1-CA5B | NR_160544.1 | n.912C>A | non_coding_transcript_exon_variant | Exon 6 of 12 | ||||
CA5BP1-CA5B | NR_160545.1 | n.912C>A | non_coding_transcript_exon_variant | Exon 6 of 6 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 21
GnomAD3 exomes AF: 0.00000557 AC: 1AN: 179602Hom.: 0 AF XY: 0.0000155 AC XY: 1AN XY: 64418
GnomAD4 exome AF: 9.13e-7 AC: 1AN: 1095140Hom.: 0 Cov.: 31 AF XY: 0.00000277 AC XY: 1AN XY: 360974
GnomAD4 genome Cov.: 21
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at