9-21206904-T-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_002171.2(IFNA10):c.194A>T(p.Glu65Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000143 in 1,613,690 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002171.2 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 |
---|---|---|---|---|---|---|---|
IFNA10 | NM_002171.2 | c.194A>T | p.Glu65Val | missense_variant | 1/1 | ENST00000357374.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IFNA10 | ENST00000357374.2 | c.194A>T | p.Glu65Val | missense_variant | 1/1 | NM_002171.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151898Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 251276Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135816
GnomAD4 exome AF: 0.0000150 AC: 22AN: 1461792Hom.: 0 Cov.: 33 AF XY: 0.00000963 AC XY: 7AN XY: 727200
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151898Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74188
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at