9-21187312-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_021068.4(IFNA4):c.220G>A(p.Ala74Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.586 in 1,612,590 control chromosomes in the GnomAD database, including 280,134 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A74V) has been classified as Uncertain significance.
Frequency
Consequence
NM_021068.4 missense
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: 0.594 AC: 90083AN: 151636Hom.: 27007 Cov.: 30
GnomAD3 exomes AF: 0.616 AC: 154671AN: 250914Hom.: 48831 AF XY: 0.614 AC XY: 83225AN XY: 135632
GnomAD4 exome AF: 0.585 AC: 854233AN: 1460836Hom.: 253091 Cov.: 76 AF XY: 0.587 AC XY: 426323AN XY: 726692
GnomAD4 genome AF: 0.594 AC: 90173AN: 151754Hom.: 27043 Cov.: 30 AF XY: 0.597 AC XY: 44257AN XY: 74144
ClinVar
Submissions by phenotype
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at