5-16179185-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001102562.3(MARCHF11):c.391G>A(p.Glu131Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00042 in 1,348,982 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E131D) has been classified as Uncertain significance.
Frequency
Consequence
NM_001102562.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000204 AC: 31AN: 151704Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.000416 AC: 5AN: 12010Hom.: 0 AF XY: 0.000391 AC XY: 3AN XY: 7678
GnomAD4 exome AF: 0.000448 AC: 536AN: 1197278Hom.: 0 Cov.: 34 AF XY: 0.000451 AC XY: 263AN XY: 583388
GnomAD4 genome AF: 0.000204 AC: 31AN: 151704Hom.: 0 Cov.: 30 AF XY: 0.000216 AC XY: 16AN XY: 74088
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.391G>A (p.E131K) alteration is located in exon 1 (coding exon 1) of the MARCH11 gene. This alteration results from a G to A substitution at nucleotide position 391, causing the glutamic acid (E) at amino acid position 131 to be replaced by a lysine (K). 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