chr19-1271569-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001300829.2(CIRBP):c.368A>G(p.Tyr123Cys) variant causes a missense change. The variant allele was found at a frequency of 0.00000703 in 1,422,028 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 Uncertain significance (★).
Frequency
Consequence
NM_001300829.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000453 AC: 10AN: 220774Hom.: 0 AF XY: 0.0000583 AC XY: 7AN XY: 120122
GnomAD4 exome AF: 0.00000703 AC: 10AN: 1422028Hom.: 0 Cov.: 33 AF XY: 0.00000991 AC XY: 7AN XY: 706570
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.368A>G (p.Y123C) alteration is located in exon 5 (coding exon 4) of the CIRBP gene. This alteration results from a A to G substitution at nucleotide position 368, causing the tyrosine (Y) at amino acid position 123 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at