9-120969130-G-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001735.3(C5):c.4163-12C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0936 in 1,610,404 control chromosomes in the GnomAD database, including 13,325 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001735.3 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: 0.180 AC: 27330AN: 152048Hom.: 4861 Cov.: 32
GnomAD3 exomes AF: 0.0977 AC: 24539AN: 251100Hom.: 2606 AF XY: 0.0905 AC XY: 12289AN XY: 135718
GnomAD4 exome AF: 0.0846 AC: 123347AN: 1458238Hom.: 8437 Cov.: 29 AF XY: 0.0833 AC XY: 60417AN XY: 725608
GnomAD4 genome AF: 0.180 AC: 27405AN: 152166Hom.: 4888 Cov.: 32 AF XY: 0.174 AC XY: 12947AN XY: 74408
ClinVar
Submissions by phenotype
not provided Benign:2
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not specified Benign:1
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 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at