19-50791715-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6BP7
The NM_033068.3(ACP4):c.363C>T(p.Ala121Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000167 in 1,613,292 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_033068.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ACP4 | ENST00000270593.2 | c.363C>T | p.Ala121Ala | synonymous_variant | Exon 4 of 11 | 1 | NM_033068.3 | ENSP00000270593.1 | ||
SMIM47 | ENST00000636757.1 | c.-60+690G>A | intron_variant | Intron 2 of 4 | 5 | ENSP00000489695.1 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152208Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000360 AC: 9AN: 250332Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135586
GnomAD4 exome AF: 0.0000130 AC: 19AN: 1460966Hom.: 0 Cov.: 31 AF XY: 0.0000110 AC XY: 8AN XY: 726818
GnomAD4 genome AF: 0.0000525 AC: 8AN: 152326Hom.: 0 Cov.: 32 AF XY: 0.0000268 AC XY: 2AN XY: 74494
ClinVar
Submissions by phenotype
ACP4-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at