chr6-33418157-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000374500.10(CUTA):c.-98G>A variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000353 in 1,614,186 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
ENST00000374500.10 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152240Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000112 AC: 28AN: 251042Hom.: 0 AF XY: 0.000103 AC XY: 14AN XY: 135736
GnomAD4 exome AF: 0.0000322 AC: 47AN: 1461828Hom.: 0 Cov.: 33 AF XY: 0.0000316 AC XY: 23AN XY: 727214
GnomAD4 genome AF: 0.0000656 AC: 10AN: 152358Hom.: 0 Cov.: 32 AF XY: 0.0000537 AC XY: 4AN XY: 74496
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.29G>A (p.G10E) alteration is located in exon 1 (coding exon 1) of the CUTA gene. This alteration results from a G to A substitution at nucleotide position 29, causing the glycine (G) at amino acid position 10 to be replaced by a glutamic acid (E). 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