chr1-161630018-C-G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001244753.2(FCGR3B):c.79G>C(p.Val27Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0001 in 1,408,556 control chromosomes in the GnomAD database, including 25 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001244753.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FCGR3B | NM_001244753.2 | c.79G>C | p.Val27Leu | missense_variant | 3/5 | ENST00000650385.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FCGR3B | ENST00000650385.1 | c.79G>C | p.Val27Leu | missense_variant | 3/5 | NM_001244753.2 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000421 AC: 5AN: 118744Hom.: 1 Cov.: 17
GnomAD3 exomes AF: 0.0000800 AC: 17AN: 212538Hom.: 5 AF XY: 0.000104 AC XY: 12AN XY: 115488
GnomAD4 exome AF: 0.000105 AC: 136AN: 1289812Hom.: 24 Cov.: 33 AF XY: 0.0000748 AC XY: 48AN XY: 641668
GnomAD4 genome ? AF: 0.0000421 AC: 5AN: 118744Hom.: 1 Cov.: 17 AF XY: 0.00 AC XY: 0AN XY: 57148
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 21, 2021 | The c.79G>C (p.V27L) alteration is located in exon 4 (coding exon 3) of the FCGR3B gene. This alteration results from a G to C substitution at nucleotide position 79, causing the valine (V) at amino acid position 27 to be replaced by a leucine (L). 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