chr9-21305174-T-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_002169.3(IFNA5):āc.83A>Gā(p.Gln28Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000359 in 1,613,774 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_002169.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IFNA5 | NM_002169.3 | c.83A>G | p.Gln28Arg | missense_variant | 1/1 | ENST00000610521.2 | |
LOC107987053 | XR_001746634.2 | n.472-31447T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IFNA5 | ENST00000610521.2 | c.83A>G | p.Gln28Arg | missense_variant | 1/1 | NM_002169.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000210 AC: 32AN: 152156Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000558 AC: 14AN: 251064Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135688
GnomAD4 exome AF: 0.0000178 AC: 26AN: 1461618Hom.: 0 Cov.: 31 AF XY: 0.00000963 AC XY: 7AN XY: 727112
GnomAD4 genome AF: 0.000210 AC: 32AN: 152156Hom.: 0 Cov.: 32 AF XY: 0.000188 AC XY: 14AN XY: 74318
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 06, 2022 | The c.83A>G (p.Q28R) alteration is located in exon 1 (coding exon 1) of the IFNA5 gene. This alteration results from a A to G substitution at nucleotide position 83, causing the glutamine (Q) at amino acid position 28 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at