chr5-76132110-G-A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BA1
The NM_014979.4(SV2C):c.360G>A(p.Arg120Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.707 in 1,613,672 control chromosomes in the GnomAD database, including 417,424 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_014979.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.591 AC: 89760AN: 151872Hom.: 29417 Cov.: 31
GnomAD3 exomes AF: 0.626 AC: 155839AN: 248990Hom.: 52687 AF XY: 0.645 AC XY: 87076AN XY: 135072
GnomAD4 exome AF: 0.719 AC: 1051093AN: 1461682Hom.: 388004 Cov.: 76 AF XY: 0.720 AC XY: 523693AN XY: 727120
GnomAD4 genome AF: 0.591 AC: 89781AN: 151990Hom.: 29420 Cov.: 31 AF XY: 0.585 AC XY: 43425AN XY: 74292
ClinVar
Submissions by phenotype
SV2C-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at