8-85328576-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001128831.4(CA1):āc.770T>Cā(p.Val257Ala) variant causes a missense change. The variant allele was found at a frequency of 0.0000243 in 1,603,940 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001128831.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152162Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 250986Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135648
GnomAD4 exome AF: 0.0000234 AC: 34AN: 1451778Hom.: 0 Cov.: 28 AF XY: 0.0000194 AC XY: 14AN XY: 722836
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152162Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74318
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.770T>C (p.V257A) alteration is located in exon 9 (coding exon 7) of the CA1 gene. This alteration results from a T to C substitution at nucleotide position 770, causing the valine (V) at amino acid position 257 to be replaced by an alanine (A). 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