Our verdict is Likely benign. Variant got -1 ACMG points: 1P and 2B. PM2_SupportingBP6_Moderate
The NM_012425.4(RSU1):c.599-11_599-10insT variant causes a splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD Genomes project. Variant has been reported in ClinVar as Benign (★).
NM_012425.4 splice_polypyrimidine_tract, intron
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Verdict is Likely_benign. Variant got -1 ACMG points.
GnomAD3 genomesCov.: 22 GnomAD4 exome AF: 0.00000150AC: 2AN: 1331312Hom.: 0 AF XY: 0.00000151AC XY: 1AN XY: 663734
Submissions by phenotype
|Benign, criteria provided, single submitter
|Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|Mar 29, 2016
|Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency -
Find out detailed SpliceAI scores and Pangolin per-transcript scores at