rs2012199
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000361835.8(FCRL5):c.1253G>T(p.Gly418Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000186 in 1,613,964 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 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. G418S) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000361835.8 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 |
---|---|---|---|---|---|---|---|---|
FCRL5 | NM_031281.3 | c.1253G>T | p.Gly418Val | missense_variant | 7/17 | ENST00000361835.8 | NP_112571.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FCRL5 | ENST00000361835.8 | c.1253G>T | p.Gly418Val | missense_variant | 7/17 | 1 | NM_031281.3 | ENSP00000354691 | P1 | |
FCRL5 | ENST00000368190.7 | c.1253G>T | p.Gly418Val | missense_variant | 7/10 | 1 | ENSP00000357173 | |||
FCRL5 | ENST00000368189.3 | c.1253G>T | p.Gly418Val | missense_variant | 7/8 | 1 | ENSP00000357172 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152102Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461862Hom.: 0 Cov.: 65 AF XY: 0.00000138 AC XY: 1AN XY: 727226
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152102Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74302
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at