rs140932797
Variant summary
Our verdict is Benign. The variant received -10 ACMG points: 0P and 10B. BP6_ModerateBS1BS2
The NM_021067.5(GINS1):c.104A>G(p.Glu35Gly) variant causes a missense change. The variant allele was found at a frequency of 0.000799 in 1,586,188 control chromosomes in the GnomAD database, including 14 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_021067.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Our verdict: Benign. The variant received -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00417 AC: 635AN: 152196Hom.: 6 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.00119 AC: 298AN: 251470 AF XY: 0.000736 show subpopulations
GnomAD4 exome AF: 0.000439 AC: 629AN: 1433874Hom.: 8 Cov.: 25 AF XY: 0.000357 AC XY: 255AN XY: 715092 show subpopulations
GnomAD4 genome AF: 0.00419 AC: 638AN: 152314Hom.: 6 Cov.: 32 AF XY: 0.00375 AC XY: 279AN XY: 74484 show subpopulations
ClinVar
Submissions by phenotype
not provided Benign:1
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GINS1-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