chr1-1294805-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_030649.3(ACAP3):c.1825G>A(p.Asp609Asn) variant causes a missense change. The variant allele was found at a frequency of 0.000000715 in 1,397,656 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 Uncertain significance (★).
Frequency
Consequence
NM_030649.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 7.15e-7 AC: 1AN: 1397656Hom.: 0 Cov.: 32 AF XY: 0.00000145 AC XY: 1AN XY: 689340
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1825G>A (p.D609N) alteration is located in exon 20 (coding exon 20) of the ACAP3 gene. This alteration results from a G to A substitution at nucleotide position 1825, causing the aspartic acid (D) at amino acid position 609 to be replaced by an asparagine (N). 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.