2-190932730-A-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_ModerateBP6BP7BS1
The NM_001256310.2(GLS):āc.1665A>Gā(p.Pro555Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000587 in 1,600,410 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_001256310.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000257 AC: 39AN: 151890Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000606 AC: 14AN: 231122Hom.: 0 AF XY: 0.0000315 AC XY: 4AN XY: 127152
GnomAD4 exome AF: 0.0000380 AC: 55AN: 1448402Hom.: 0 Cov.: 27 AF XY: 0.0000305 AC XY: 22AN XY: 720458
GnomAD4 genome AF: 0.000257 AC: 39AN: 152008Hom.: 0 Cov.: 32 AF XY: 0.000283 AC XY: 21AN XY: 74336
ClinVar
Submissions by phenotype
GLS-related disorder Benign:1
This variant is classified as likely 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