chr19-6307235-C-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_133492.3(ACER1):c.544G>A(p.Val182Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00456 in 1,614,148 control chromosomes in the GnomAD database, including 21 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 (★).
Frequency
Consequence
NM_133492.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00336 AC: 511AN: 152184Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00370 AC: 931AN: 251394Hom.: 4 AF XY: 0.00380 AC XY: 517AN XY: 135890
GnomAD4 exome AF: 0.00468 AC: 6848AN: 1461846Hom.: 21 Cov.: 32 AF XY: 0.00456 AC XY: 3315AN XY: 727232
GnomAD4 genome AF: 0.00336 AC: 511AN: 152302Hom.: 0 Cov.: 31 AF XY: 0.00332 AC XY: 247AN XY: 74478
ClinVar
Submissions by phenotype
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at