1-157586207-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_031282.3(FCRL4):c.1096G>A(p.Gly366Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000316 in 1,613,872 control chromosomes in the GnomAD database, with no homozygous occurrence. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_031282.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000789 AC: 12AN: 152150Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 250536Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135374
GnomAD4 exome AF: 0.0000267 AC: 39AN: 1461604Hom.: 0 Cov.: 31 AF XY: 0.0000275 AC XY: 20AN XY: 727060
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152268Hom.: 0 Cov.: 31 AF XY: 0.0000940 AC XY: 7AN XY: 74452
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1096G>A (p.G366S) alteration is located in exon 6 (coding exon 6) of the FCRL4 gene. This alteration results from a G to A substitution at nucleotide position 1096, causing the glycine (G) at amino acid position 366 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