X-71118549-A-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The ENST00000692304(MED12):c.-206A>G variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
ENST00000692304 5_prime_UTR
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: 0.550 AC: 60675AN: 110285Hom.: 12781 Cov.: 22 AF XY: 0.535 AC XY: 17383AN XY: 32501
GnomAD4 exome AF: 0.471 AC: 156103AN: 331561Hom.: 25492 Cov.: 3 AF XY: 0.470 AC XY: 51828AN XY: 110233
GnomAD4 genome Data not reliable, filtered out with message: InbreedingCoeff AF: 0.550 AC: 60731AN: 110341Hom.: 12781 Cov.: 22 AF XY: 0.536 AC XY: 17441AN XY: 32567
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