rs569586169
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBS1_SupportingBS2
The NM_022489.4(INF2):c.2236G>A(p.Glu746Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000498 in 1,546,418 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_022489.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
INF2 | NM_022489.4 | c.2236G>A | p.Glu746Lys | missense_variant | 13/23 | ENST00000392634.9 | NP_071934.3 | |
INF2 | NM_001031714.4 | c.2236G>A | p.Glu746Lys | missense_variant | 13/22 | NP_001026884.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
INF2 | ENST00000392634.9 | c.2236G>A | p.Glu746Lys | missense_variant | 13/23 | 5 | NM_022489.4 | ENSP00000376410 | P4 |
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152210Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000135 AC: 20AN: 148692Hom.: 0 AF XY: 0.000152 AC XY: 12AN XY: 79168
GnomAD4 exome AF: 0.0000459 AC: 64AN: 1394090Hom.: 0 Cov.: 31 AF XY: 0.0000509 AC XY: 35AN XY: 687922
GnomAD4 genome AF: 0.0000853 AC: 13AN: 152328Hom.: 0 Cov.: 33 AF XY: 0.000107 AC XY: 8AN XY: 74488
ClinVar
Submissions by phenotype
Focal segmental glomerulosclerosis 5;C4302667:Charcot-Marie-Tooth disease dominant intermediate E Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Aug 30, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at