1-157767276-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_030764.4(FCRL2):c.1117G>A(p.Gly373Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000384 in 1,614,010 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_030764.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FCRL2 | ENST00000361516.8 | c.1117G>A | p.Gly373Ser | missense_variant | Exon 6 of 12 | 1 | NM_030764.4 | ENSP00000355157.3 | ||
FCRL2 | ENST00000469986.1 | c.358G>A | p.Gly120Ser | missense_variant | Exon 1 of 2 | 1 | ENSP00000417393.1 | |||
FCRL2 | ENST00000368181.4 | c.311-305G>A | intron_variant | Intron 3 of 7 | 1 | ENSP00000357163.4 | ||||
FCRL2 | ENST00000368178.3 | n.3035G>A | non_coding_transcript_exon_variant | Exon 1 of 7 | 1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152190Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 251172Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135736
GnomAD4 exome AF: 0.0000417 AC: 61AN: 1461820Hom.: 0 Cov.: 31 AF XY: 0.0000523 AC XY: 38AN XY: 727204
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152190Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74344
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1117G>A (p.G373S) alteration is located in exon 6 (coding exon 6) of the FCRL2 gene. This alteration results from a G to A substitution at nucleotide position 1117, causing the glycine (G) at amino acid position 373 to be replaced by a serine (S). 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