9-136507447-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_017617.5(NOTCH1):c.3511-10G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00206 in 1,597,334 control chromosomes in the GnomAD database, including 30 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: 0.00177 AC: 270AN: 152182Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.00334 AC: 713AN: 213328Hom.: 6 AF XY: 0.00401 AC XY: 466AN XY: 116122
GnomAD4 exome AF: 0.00209 AC: 3026AN: 1445034Hom.: 30 Cov.: 33 AF XY: 0.00243 AC XY: 1744AN XY: 717480
GnomAD4 genome AF: 0.00178 AC: 271AN: 152300Hom.: 0 Cov.: 34 AF XY: 0.00201 AC XY: 150AN XY: 74478
ClinVar
Submissions by phenotype
not specified Benign:5
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. -
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not provided Benign:3
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NOTCH1: BS1, BS2 -
Adams-Oliver syndrome 5 Benign:2
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Familial thoracic aortic aneurysm and aortic dissection Benign:1
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Aortic valve disease 1 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at