11-92984961-G-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000528076.1(MTNR1B):āc.319G>Cā(p.Ala107Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.567 in 455,190 control chromosomes in the GnomAD database, including 75,410 homozygotes. In-silico tool predicts a benign outcome for this variant. 4/4 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
ENST00000528076.1 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: 0.547 AC: 83066AN: 151958Hom.: 23069 Cov.: 33
GnomAD3 exomes AF: 0.602 AC: 76807AN: 127482Hom.: 24030 AF XY: 0.601 AC XY: 41927AN XY: 69782
GnomAD4 exome AF: 0.578 AC: 175160AN: 303114Hom.: 52313 Cov.: 0 AF XY: 0.586 AC XY: 101164AN XY: 172576
GnomAD4 genome AF: 0.547 AC: 83154AN: 152076Hom.: 23097 Cov.: 33 AF XY: 0.556 AC XY: 41288AN XY: 74320
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at