chr2-55027029-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000337526.11(RTN4):āc.1070A>Gā(p.Asp357Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000103 in 1,461,282 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D357V) has been classified as Likely benign.
Frequency
Consequence
ENST00000337526.11 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RTN4 | NM_020532.5 | c.1070A>G | p.Asp357Gly | missense_variant | 3/9 | ENST00000337526.11 | NP_065393.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RTN4 | ENST00000337526.11 | c.1070A>G | p.Asp357Gly | missense_variant | 3/9 | 1 | NM_020532.5 | ENSP00000337838 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000359 AC: 9AN: 250684Hom.: 0 AF XY: 0.0000369 AC XY: 5AN XY: 135510
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1461282Hom.: 0 Cov.: 34 AF XY: 0.0000124 AC XY: 9AN XY: 726962
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at