2-43224577-C-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6BP7BS2
The NM_006887.5(ZFP36L2):c.1227G>A(p.Pro409Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000418 in 1,334,522 control chromosomes in the GnomAD database, including 3 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_006887.5 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: 0.000799 AC: 121AN: 151358Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000804 AC: 14AN: 17410Hom.: 1 AF XY: 0.000629 AC XY: 7AN XY: 11120
GnomAD4 exome AF: 0.000369 AC: 436AN: 1183056Hom.: 3 Cov.: 30 AF XY: 0.000399 AC XY: 230AN XY: 576844
GnomAD4 genome AF: 0.000805 AC: 122AN: 151466Hom.: 0 Cov.: 32 AF XY: 0.000567 AC XY: 42AN XY: 74014
ClinVar
Submissions by phenotype
ZFP36L2-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