5-126878360-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_178450.5(MARCHF3):c.428G>A(p.Arg143Gln) variant causes a missense change. The variant allele was found at a frequency of 0.000133 in 1,613,860 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_178450.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000131 AC: 20AN: 152180Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000156 AC: 39AN: 250576Hom.: 0 AF XY: 0.000133 AC XY: 18AN XY: 135482
GnomAD4 exome AF: 0.000133 AC: 194AN: 1461680Hom.: 0 Cov.: 32 AF XY: 0.000139 AC XY: 101AN XY: 727114
GnomAD4 genome AF: 0.000131 AC: 20AN: 152180Hom.: 0 Cov.: 33 AF XY: 0.000175 AC XY: 13AN XY: 74340
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.428G>A (p.R143Q) alteration is located in exon 4 (coding exon 3) of the MARCH3 gene. This alteration results from a G to A substitution at nucleotide position 428, causing the arginine (R) at amino acid position 143 to be replaced by a glutamine (Q). 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