7-117725092-T-C
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6BP7
The NM_033427.3(CTTNBP2):āc.4221A>Gā(p.Leu1407Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000485 in 1,612,910 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_033427.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000361 AC: 55AN: 152260Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000294 AC: 74AN: 251358Hom.: 0 AF XY: 0.000309 AC XY: 42AN XY: 135854
GnomAD4 exome AF: 0.000498 AC: 728AN: 1460532Hom.: 0 Cov.: 32 AF XY: 0.000512 AC XY: 372AN XY: 726586
GnomAD4 genome AF: 0.000361 AC: 55AN: 152378Hom.: 0 Cov.: 33 AF XY: 0.000416 AC XY: 31AN XY: 74524
ClinVar
Submissions by phenotype
CTTNBP2-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