8-6442011-A-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_024596.5(MCPH1):c.581-56A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.801 in 1,238,778 control chromosomes in the GnomAD database, including 404,286 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_024596.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.706 AC: 107359AN: 152020Hom.: 40742 Cov.: 32
GnomAD4 exome AF: 0.814 AC: 884770AN: 1086640Hom.: 363533 Cov.: 14 AF XY: 0.814 AC XY: 454157AN XY: 558192
GnomAD4 genome AF: 0.706 AC: 107398AN: 152138Hom.: 40753 Cov.: 32 AF XY: 0.713 AC XY: 53060AN XY: 74382
ClinVar
Submissions by phenotype
not provided Benign:2
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This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at