rs7529425
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001136219.3(FCGR2A):c.365-11G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.114 in 1,613,708 control chromosomes in the GnomAD database, including 11,631 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001136219.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0981 AC: 14913AN: 152032Hom.: 913 Cov.: 32
GnomAD3 exomes AF: 0.106 AC: 26746AN: 251380Hom.: 1853 AF XY: 0.111 AC XY: 15036AN XY: 135866
GnomAD4 exome AF: 0.115 AC: 168579AN: 1461558Hom.: 10716 Cov.: 32 AF XY: 0.116 AC XY: 84306AN XY: 727094
GnomAD4 genome AF: 0.0980 AC: 14914AN: 152150Hom.: 915 Cov.: 32 AF XY: 0.0986 AC XY: 7332AN XY: 74372
ClinVar
Submissions by phenotype
not specified Benign:1
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at