1-112647213-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_006135.3(CAPZA1):c.43C>A(p.Arg15Ser) variant causes a missense change. The variant allele was found at a frequency of 0.000000736 in 1,358,364 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R15C) has been classified as Uncertain significance.
Frequency
Consequence
NM_006135.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CAPZA1 | NM_006135.3 | c.43C>A | p.Arg15Ser | missense_variant | Exon 2 of 10 | ENST00000263168.4 | NP_006126.1 | |
CAPZA1 | XM_017002424.3 | c.43C>A | p.Arg15Ser | missense_variant | Exon 2 of 10 | XP_016857913.1 | ||
CAPZA1 | XM_011542225.4 | c.43C>A | p.Arg15Ser | missense_variant | Exon 2 of 9 | XP_011540527.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CAPZA1 | ENST00000263168.4 | c.43C>A | p.Arg15Ser | missense_variant | Exon 2 of 10 | 1 | NM_006135.3 | ENSP00000263168.3 | ||
CAPZA1 | ENST00000476936.5 | n.69C>A | non_coding_transcript_exon_variant | Exon 2 of 8 | 3 | |||||
CAPZA1 | ENST00000485542.5 | n.83C>A | non_coding_transcript_exon_variant | Exon 2 of 3 | 2 | |||||
CAPZA1 | ENST00000498626.1 | n.96C>A | non_coding_transcript_exon_variant | Exon 3 of 9 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 7.36e-7 AC: 1AN: 1358364Hom.: 0 Cov.: 25 AF XY: 0.00 AC XY: 0AN XY: 673926
GnomAD4 genome Cov.: 32
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.