1-149791332-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_000566.4(FCGR1A):c.940C>G(p.Arg314Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000943 in 1,590,128 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R314C) has been classified as Uncertain significance.
Frequency
Consequence
NM_000566.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000480 AC: 7AN: 145696Hom.: 0 Cov.: 26
GnomAD3 exomes AF: 0.0000285 AC: 7AN: 245996Hom.: 2 AF XY: 0.00 AC XY: 0AN XY: 133310
GnomAD4 exome AF: 0.00000554 AC: 8AN: 1444338Hom.: 1 Cov.: 31 AF XY: 0.00000278 AC XY: 2AN XY: 718646
GnomAD4 genome AF: 0.0000480 AC: 7AN: 145790Hom.: 0 Cov.: 26 AF XY: 0.0000281 AC XY: 2AN XY: 71186
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.940C>G (p.R314G) alteration is located in exon 6 (coding exon 6) of the FCGR1A gene. This alteration results from a C to G substitution at nucleotide position 940, causing the arginine (R) at amino acid position 314 to be replaced by a glycine (G). 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