chr17-7347109-G-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_014716.4(ACAP1):c.1210G>C(p.Val404Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000477 in 1,613,758 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
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ACAP1 | NM_014716.4 | c.1210G>C | p.Val404Leu | missense_variant | 14/22 | ENST00000158762.8 | |
ACAP1 | XM_047437150.1 | c.988G>C | p.Val330Leu | missense_variant | 14/22 | ||
ACAP1 | XM_047437151.1 | c.988G>C | p.Val330Leu | missense_variant | 13/21 | ||
ACAP1 | XM_047437152.1 | c.1210G>C | p.Val404Leu | missense_variant | 14/18 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACAP1 | ENST00000158762.8 | c.1210G>C | p.Val404Leu | missense_variant | 14/22 | 1 | NM_014716.4 | P1 | |
ACAP1 | ENST00000570439.1 | n.1779G>C | non_coding_transcript_exon_variant | 1/1 | |||||
ACAP1 | ENST00000576594.1 | upstream_gene_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.000250 AC: 38AN: 152236Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000481 AC: 12AN: 249740Hom.: 0 AF XY: 0.0000370 AC XY: 5AN XY: 135062
GnomAD4 exome AF: 0.0000267 AC: 39AN: 1461404Hom.: 0 Cov.: 31 AF XY: 0.0000193 AC XY: 14AN XY: 727010
GnomAD4 genome ? AF: 0.000249 AC: 38AN: 152354Hom.: 0 Cov.: 33 AF XY: 0.000268 AC XY: 20AN XY: 74500
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 19, 2023 | The c.1210G>C (p.V404L) 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 1210, causing the valine (V) at amino acid position 404 to be replaced by a leucine (L). 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