X-3309826-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_015419.4(MXRA5):c.8377G>C(p.Gly2793Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000546 in 1,098,190 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015419.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 22
GnomAD3 exomes AF: 0.00000545 AC: 1AN: 183436Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 67870
GnomAD4 exome AF: 0.00000546 AC: 6AN: 1098190Hom.: 0 Cov.: 30 AF XY: 0.00000275 AC XY: 1AN XY: 363544
GnomAD4 genome Cov.: 22
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.8377G>C (p.G2793R) alteration is located in exon 7 (coding exon 6) of the MXRA5 gene. This alteration results from a G to C substitution at nucleotide position 8377, causing the glycine (G) at amino acid position 2793 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