3-12582206-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014160.5(MKRN2):c.1204G>A(p.Gly402Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000219 in 1,461,892 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014160.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000398 AC: 10AN: 251322Hom.: 0 AF XY: 0.0000515 AC XY: 7AN XY: 135822
GnomAD4 exome AF: 0.0000219 AC: 32AN: 1461892Hom.: 0 Cov.: 31 AF XY: 0.0000261 AC XY: 19AN XY: 727248
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1204G>A (p.G402R) alteration is located in exon 8 (coding exon 8) of the MKRN2 gene. This alteration results from a G to A substitution at nucleotide position 1204, causing the glycine (G) at amino acid position 402 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