chr11-47248704-C-T
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BA1
The NM_001610.4(ACP2):c.86G>A(p.Arg29Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.341 in 1,610,240 control chromosomes in the GnomAD database, including 102,781 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001610.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ACP2 | NM_001610.4 | c.86G>A | p.Arg29Gln | missense_variant | 1/11 | ENST00000672073.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACP2 | ENST00000672073.1 | c.86G>A | p.Arg29Gln | missense_variant | 1/11 | NM_001610.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.405 AC: 61611AN: 152012Hom.: 13953 Cov.: 32
GnomAD3 exomes AF: 0.392 AC: 95049AN: 242358Hom.: 21059 AF XY: 0.383 AC XY: 50337AN XY: 131300
GnomAD4 exome AF: 0.335 AC: 488164AN: 1458110Hom.: 88813 Cov.: 46 AF XY: 0.336 AC XY: 243674AN XY: 724988
GnomAD4 genome AF: 0.405 AC: 61660AN: 152130Hom.: 13968 Cov.: 32 AF XY: 0.415 AC XY: 30845AN XY: 74384
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, no assertion criteria provided | clinical testing | Mayo Clinic Laboratories, Mayo Clinic | Oct 26, 2015 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at