NM_001103146.3:c.241C>T
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_ModerateBP6BS2
The NM_001103146.3(GIGYF2):c.241C>T(p.Leu81Leu) variant causes a synonymous change. The variant allele was found at a frequency of 0.000096 in 1,593,146 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_001103146.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000138 AC: 21AN: 152184Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000187 AC: 47AN: 251396Hom.: 0 AF XY: 0.000206 AC XY: 28AN XY: 135866
GnomAD4 exome AF: 0.0000916 AC: 132AN: 1440962Hom.: 0 Cov.: 26 AF XY: 0.0000835 AC XY: 60AN XY: 718402
GnomAD4 genome AF: 0.000138 AC: 21AN: 152184Hom.: 0 Cov.: 32 AF XY: 0.0000942 AC XY: 7AN XY: 74338
ClinVar
Submissions by phenotype
GIGYF2-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