rs767907487
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 3P and 1B. PM2PP5BP4
The NM_033068.3(ACP4):āc.382G>Cā(p.Ala128Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000753 in 1,460,676 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars).
Frequency
Consequence
NM_033068.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ACP4 | NM_033068.3 | c.382G>C | p.Ala128Pro | missense_variant | 4/11 | ENST00000270593.2 | |
LOC105372439 | XR_936026.3 | n.434+671C>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACP4 | ENST00000270593.2 | c.382G>C | p.Ala128Pro | missense_variant | 4/11 | 1 | NM_033068.3 | P1 | |
SMIM47 | ENST00000636757.1 | c.-60+671C>G | intron_variant | 5 | A2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000241 AC: 6AN: 249356Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135270
GnomAD4 exome AF: 0.00000753 AC: 11AN: 1460676Hom.: 0 Cov.: 31 AF XY: 0.00000826 AC XY: 6AN XY: 726650
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Amelogenesis imperfecta, type 1J Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Aug 15, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at