NM_030649.3:c.2275G>A
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_030649.3(ACAP3):c.2275G>A(p.Gly759Ser) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_030649.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ACAP3 | ENST00000354700.10 | c.2275G>A | p.Gly759Ser | missense_variant | Exon 23 of 24 | 1 | NM_030649.3 | ENSP00000346733.5 | ||
ACAP3 | ENST00000353662.4 | c.2050G>A | p.Gly684Ser | missense_variant | Exon 20 of 21 | 1 | ENSP00000321139.4 | |||
ACAP3 | ENST00000467278.5 | n.1801G>A | non_coding_transcript_exon_variant | Exon 13 of 14 | 1 | |||||
ACAP3 | ENST00000492936.5 | n.3915G>A | non_coding_transcript_exon_variant | Exon 21 of 22 | 1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1429226Hom.: 0 Cov.: 48 AF XY: 0.00 AC XY: 0AN XY: 711474
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2275G>A (p.G759S) alteration is located in exon 23 (coding exon 23) of the ACAP3 gene. This alteration results from a G to A substitution at nucleotide position 2275, causing the glycine (G) at amino acid position 759 to be replaced by a serine (S). 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
Publications
No publications associated with this variant yet.