14-104689664-G-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_022489.4(INF2):c.-85G>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 0.123 in 982,220 control chromosomes in the GnomAD database, including 7,879 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_022489.4 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: 0.0930 AC: 13994AN: 150434Hom.: 884 Cov.: 31
GnomAD4 exome AF: 0.129 AC: 107130AN: 831682Hom.: 6994 Cov.: 27 AF XY: 0.129 AC XY: 49532AN XY: 384086
GnomAD4 genome AF: 0.0930 AC: 13995AN: 150538Hom.: 885 Cov.: 31 AF XY: 0.0927 AC XY: 6820AN XY: 73566
ClinVar
Submissions by phenotype
not provided Benign:2
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Focal segmental glomerulosclerosis 5 Benign:1
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at