chr17-7347104-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014716.4(ACAP1):c.1205G>C(p.Gly402Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000744 in 1,613,440 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014716.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ACAP1 | NM_014716.4 | c.1205G>C | p.Gly402Ala | missense_variant | 14/22 | ENST00000158762.8 | |
ACAP1 | XM_047437150.1 | c.983G>C | p.Gly328Ala | missense_variant | 14/22 | ||
ACAP1 | XM_047437151.1 | c.983G>C | p.Gly328Ala | missense_variant | 13/21 | ||
ACAP1 | XM_047437152.1 | c.1205G>C | p.Gly402Ala | missense_variant | 14/18 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACAP1 | ENST00000158762.8 | c.1205G>C | p.Gly402Ala | missense_variant | 14/22 | 1 | NM_014716.4 | P1 | |
ACAP1 | ENST00000570439.1 | n.1774G>C | non_coding_transcript_exon_variant | 1/1 | |||||
ACAP1 | ENST00000576594.1 | upstream_gene_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152232Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000401 AC: 10AN: 249398Hom.: 0 AF XY: 0.0000445 AC XY: 6AN XY: 134888
GnomAD4 exome AF: 0.00000684 AC: 10AN: 1461208Hom.: 0 Cov.: 31 AF XY: 0.00000825 AC XY: 6AN XY: 726886
GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152232Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74372
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 04, 2024 | The c.1205G>C (p.G402A) alteration is located in exon 14 (coding exon 14) of the ACAP1 gene. This alteration results from a G to C substitution at nucleotide position 1205, causing the glycine (G) at amino acid position 402 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