6-16238700-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_006877.4(GMPR):c.7C>T(p.Arg3Cys) variant causes a missense change. The variant allele was found at a frequency of 0.00000423 in 1,417,074 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006877.4 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: 0.00000661 AC: 1AN: 151396Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000395 AC: 5AN: 1265678Hom.: 0 Cov.: 27 AF XY: 0.00000321 AC XY: 2AN XY: 622740
GnomAD4 genome AF: 0.00000661 AC: 1AN: 151396Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 73926
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.7C>T (p.R3C) alteration is located in exon 1 (coding exon 1) of the GMPR gene. This alteration results from a C to T substitution at nucleotide position 7, causing the arginine (R) at amino acid position 3 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