chr1-157698600-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_052939.4(FCRL3):āc.82A>Gā(p.Asn28Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.47 in 1,612,742 control chromosomes in the GnomAD database, including 180,413 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 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 nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_052939.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.503 AC: 76408AN: 151948Hom.: 19697 Cov.: 32
GnomAD3 exomes AF: 0.448 AC: 112568AN: 251050Hom.: 25906 AF XY: 0.438 AC XY: 59412AN XY: 135676
GnomAD4 exome AF: 0.466 AC: 680949AN: 1460678Hom.: 160685 Cov.: 41 AF XY: 0.460 AC XY: 334394AN XY: 726734
GnomAD4 genome AF: 0.503 AC: 76482AN: 152064Hom.: 19728 Cov.: 32 AF XY: 0.497 AC XY: 36945AN XY: 74314
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at