13-113667537-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_002929.3(GRK1):c.151C>T(p.Arg51Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000353 in 1,613,412 control chromosomes in the GnomAD database, with no homozygous occurrence. 11/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002929.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000342 AC: 52AN: 152220Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000261 AC: 65AN: 248594Hom.: 0 AF XY: 0.000267 AC XY: 36AN XY: 135024
GnomAD4 exome AF: 0.000354 AC: 517AN: 1461192Hom.: 0 Cov.: 29 AF XY: 0.000365 AC XY: 265AN XY: 726868
GnomAD4 genome AF: 0.000342 AC: 52AN: 152220Hom.: 0 Cov.: 33 AF XY: 0.000215 AC XY: 16AN XY: 74362
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.151C>T (p.R51C) alteration is located in exon 1 (coding exon 1) of the GRK1 gene. This alteration results from a C to T substitution at nucleotide position 151, causing the arginine (R) at amino acid position 51 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