chr1-236537507-T-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_201544.4(LGALS8):c.56T>A(p.Phe19Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.658 in 1,564,154 control chromosomes in the GnomAD database, including 347,465 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_201544.4 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: 0.611 AC: 92806AN: 151824Hom.: 29267 Cov.: 32
GnomAD3 exomes AF: 0.611 AC: 152862AN: 250140Hom.: 48131 AF XY: 0.610 AC XY: 82517AN XY: 135244
GnomAD4 exome AF: 0.664 AC: 937110AN: 1412210Hom.: 318179 Cov.: 31 AF XY: 0.658 AC XY: 464228AN XY: 705084
GnomAD4 genome AF: 0.611 AC: 92872AN: 151944Hom.: 29286 Cov.: 32 AF XY: 0.608 AC XY: 45190AN XY: 74268
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at