1-40862075-G-C
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_133467.3(CITED4):c.53C>G(p.Pro18Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000197 in 1,322,310 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_133467.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000462 AC: 7AN: 151634Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000162 AC: 19AN: 1170568Hom.: 0 Cov.: 32 AF XY: 0.0000210 AC XY: 12AN XY: 571242
GnomAD4 genome AF: 0.0000461 AC: 7AN: 151742Hom.: 0 Cov.: 32 AF XY: 0.0000270 AC XY: 2AN XY: 74166
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.53C>G (p.P18R) alteration is located in exon 1 (coding exon 1) of the CITED4 gene. This alteration results from a C to G substitution at nucleotide position 53, causing the proline (P) at amino acid position 18 to be replaced by an arginine (R). 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