X-15764682-C-G
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_007220.4(CA5B):c.247C>G(p.Leu83Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000117 in 1,196,499 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 3 hemizygotes in GnomAD. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. L83R) has been classified as Uncertain significance.
Frequency
Consequence
NM_007220.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CA5B | NM_007220.4 | c.247C>G | p.Leu83Val | missense_variant | Exon 3 of 8 | ENST00000318636.8 | NP_009151.1 | |
CA5BP1-CA5B | NR_160544.1 | n.1011C>G | non_coding_transcript_exon_variant | Exon 6 of 12 | ||||
CA5BP1-CA5B | NR_160545.1 | n.1011C>G | non_coding_transcript_exon_variant | Exon 6 of 6 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000916 AC: 1AN: 109221Hom.: 0 Cov.: 21 AF XY: 0.0000318 AC XY: 1AN XY: 31473
GnomAD4 exome AF: 0.0000120 AC: 13AN: 1087278Hom.: 0 Cov.: 28 AF XY: 0.00000565 AC XY: 2AN XY: 353764
GnomAD4 genome AF: 0.00000916 AC: 1AN: 109221Hom.: 0 Cov.: 21 AF XY: 0.0000318 AC XY: 1AN XY: 31473
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.247C>G (p.L83V) alteration is located in exon 3 (coding exon 2) of the CA5B gene. This alteration results from a C to G substitution at nucleotide position 247, causing the leucine (L) at amino acid position 83 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at