chr11-1436037-C-T
Variant summary
Our verdict is Benign. Variant got -18 ACMG points: 0P and 18B. BP4_ModerateBP6_Very_StrongBS1BS2
The NM_001256627.2(BRSK2):c.92-3C>T variant causes a splice region, intron change. The variant allele was found at a frequency of 0.00115 in 1,603,538 control chromosomes in the GnomAD database, including 15 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001256627.2 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -18 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000984 AC: 149AN: 151490Hom.: 0 Cov.: 28
GnomAD3 exomes AF: 0.00191 AC: 454AN: 237902Hom.: 2 AF XY: 0.00240 AC XY: 311AN XY: 129500
GnomAD4 exome AF: 0.00116 AC: 1690AN: 1451928Hom.: 15 Cov.: 31 AF XY: 0.00145 AC XY: 1050AN XY: 721754
GnomAD4 genome AF: 0.000976 AC: 148AN: 151610Hom.: 0 Cov.: 28 AF XY: 0.000986 AC XY: 73AN XY: 74072
ClinVar
Submissions by phenotype
not provided Benign:3
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BRSK2: BP4, BS2 -
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BRSK2-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at