11-66599487-G-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6BP7BS2
The NM_005125.2(CCS):c.279G>T(p.Leu93Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0103 in 1,546,340 control chromosomes in the GnomAD database, including 108 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_005125.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00662 AC: 1006AN: 152072Hom.: 6 Cov.: 31
GnomAD3 exomes AF: 0.00630 AC: 1233AN: 195792Hom.: 7 AF XY: 0.00620 AC XY: 664AN XY: 107032
GnomAD4 exome AF: 0.0107 AC: 14864AN: 1394150Hom.: 102 Cov.: 31 AF XY: 0.0105 AC XY: 7241AN XY: 688700
GnomAD4 genome AF: 0.00661 AC: 1006AN: 152190Hom.: 6 Cov.: 31 AF XY: 0.00637 AC XY: 474AN XY: 74392
ClinVar
Submissions by phenotype
CCS-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