chr9-21206713-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_002171.2(IFNA10):c.385G>A(p.Val129Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000663 in 1,613,458 control chromosomes in the GnomAD database, including 1 homozygotes. 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.385G>A | p.Val129Met | missense_variant | 1/1 | ENST00000357374.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IFNA10 | ENST00000357374.2 | c.385G>A | p.Val129Met | missense_variant | 1/1 | NM_002171.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000725 AC: 11AN: 151680Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000678 AC: 17AN: 250660Hom.: 1 AF XY: 0.0000664 AC XY: 9AN XY: 135548
GnomAD4 exome AF: 0.0000657 AC: 96AN: 1461660Hom.: 1 Cov.: 32 AF XY: 0.0000633 AC XY: 46AN XY: 727132
GnomAD4 genome AF: 0.0000725 AC: 11AN: 151798Hom.: 0 Cov.: 31 AF XY: 0.0000539 AC XY: 4AN XY: 74222
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 07, 2022 | The c.385G>A (p.V129M) alteration is located in exon 1 (coding exon 1) of the IFNA10 gene. This alteration results from a G to A substitution at nucleotide position 385, causing the valine (V) at amino acid position 129 to be replaced by a methionine (M). 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