X-46574476-C-G
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_019886.4(CHST7):c.545C>G(p.Pro182Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000954 in 1,205,389 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 36 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_019886.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000133 AC: 15AN: 112588Hom.: 0 Cov.: 24 AF XY: 0.0000575 AC XY: 2AN XY: 34792
GnomAD3 exomes AF: 0.000102 AC: 17AN: 166241Hom.: 0 AF XY: 0.0000847 AC XY: 5AN XY: 59007
GnomAD4 exome AF: 0.0000915 AC: 100AN: 1092801Hom.: 0 Cov.: 32 AF XY: 0.0000945 AC XY: 34AN XY: 359801
GnomAD4 genome AF: 0.000133 AC: 15AN: 112588Hom.: 0 Cov.: 24 AF XY: 0.0000575 AC XY: 2AN XY: 34792
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.545C>G (p.P182R) alteration is located in exon 1 (coding exon 1) of the CHST7 gene. This alteration results from a C to G substitution at nucleotide position 545, causing the proline (P) at amino acid position 182 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