8-143567340-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001100878.2(MROH6):c.2059G>A(p.Ala687Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000475 in 1,219,852 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001100878.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000198 AC: 3AN: 151286Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.0000515 AC: 55AN: 1068566Hom.: 0 Cov.: 30 AF XY: 0.0000535 AC XY: 27AN XY: 504604
GnomAD4 genome AF: 0.0000198 AC: 3AN: 151286Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 73872
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2059G>A (p.A687T) alteration is located in exon 14 (coding exon 14) of the MROH6 gene. This alteration results from a G to A substitution at nucleotide position 2059, causing the alanine (A) at amino acid position 687 to be replaced by a threonine (T). 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