X-2843032-C-G
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_003918.3(GYG2):c.42C>G(p.Leu14Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000617 in 502,712 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 7 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_003918.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000145 AC: 16AN: 110614Hom.: 0 Cov.: 22 AF XY: 0.000122 AC XY: 4AN XY: 32914
GnomAD3 exomes AF: 0.0000827 AC: 8AN: 96793Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 29537
GnomAD4 exome AF: 0.0000383 AC: 15AN: 392098Hom.: 0 Cov.: 4 AF XY: 0.0000217 AC XY: 3AN XY: 138096
GnomAD4 genome AF: 0.000145 AC: 16AN: 110614Hom.: 0 Cov.: 22 AF XY: 0.000122 AC XY: 4AN XY: 32914
ClinVar
Submissions by phenotype
not provided Benign:1
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GYG2-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