9-136502993-G-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_017617.5(NOTCH1):c.5167+189C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00734 in 820,372 control chromosomes in the GnomAD database, including 227 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_017617.5 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: 0.0251 AC: 3814AN: 152128Hom.: 162 Cov.: 33
GnomAD3 exomes AF: 0.00552 AC: 745AN: 134916Hom.: 31 AF XY: 0.00420 AC XY: 309AN XY: 73496
GnomAD4 exome AF: 0.00329 AC: 2196AN: 668126Hom.: 67 Cov.: 9 AF XY: 0.00269 AC XY: 953AN XY: 354234
GnomAD4 genome AF: 0.0251 AC: 3828AN: 152246Hom.: 160 Cov.: 33 AF XY: 0.0234 AC XY: 1742AN XY: 74432
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