chr11-126269177-G-A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_017547.4(FOXRED1):c.-30G>A variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000243 in 1,549,550 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_017547.4 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00123 AC: 187AN: 152272Hom.: 2 Cov.: 33
GnomAD3 exomes AF: 0.000357 AC: 89AN: 248964Hom.: 2 AF XY: 0.000252 AC XY: 34AN XY: 135066
GnomAD4 exome AF: 0.000135 AC: 188AN: 1397160Hom.: 0 Cov.: 25 AF XY: 0.000106 AC XY: 74AN XY: 698954
GnomAD4 genome AF: 0.00123 AC: 188AN: 152390Hom.: 2 Cov.: 33 AF XY: 0.00123 AC XY: 92AN XY: 74522
ClinVar
Submissions by phenotype
not specified Benign:1
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