17-18317360-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_144775.3(SMCR8):c.1571C>T(p.Pro524Leu) variant causes a missense change. The variant allele was found at a frequency of 0.29 in 1,613,768 control chromosomes in the GnomAD database, including 70,994 homozygotes. In-silico tool predicts 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_144775.3 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: 0.263 AC: 39893AN: 151892Hom.: 5611 Cov.: 31
GnomAD3 exomes AF: 0.258 AC: 64823AN: 251308Hom.: 9119 AF XY: 0.258 AC XY: 34981AN XY: 135844
GnomAD4 exome AF: 0.293 AC: 428559AN: 1461758Hom.: 65384 Cov.: 64 AF XY: 0.289 AC XY: 210504AN XY: 727178
GnomAD4 genome AF: 0.263 AC: 39903AN: 152010Hom.: 5610 Cov.: 31 AF XY: 0.259 AC XY: 19236AN XY: 74294
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at