3-156852891-G-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_001004316.3(LEKR1):c.172G>A(p.Val58Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0423 in 1,534,660 control chromosomes in the GnomAD database, including 1,580 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/16 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001004316.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0319 AC: 4846AN: 151978Hom.: 117 Cov.: 32
GnomAD3 exomes AF: 0.0280 AC: 3965AN: 141582Hom.: 90 AF XY: 0.0275 AC XY: 2084AN XY: 75740
GnomAD4 exome AF: 0.0435 AC: 60085AN: 1382564Hom.: 1463 Cov.: 30 AF XY: 0.0421 AC XY: 28750AN XY: 682328
GnomAD4 genome AF: 0.0318 AC: 4844AN: 152096Hom.: 117 Cov.: 32 AF XY: 0.0322 AC XY: 2396AN XY: 74340
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at