8-143567381-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.2018G>A(p.Arg673His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000097 in 1,237,272 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
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151154Hom.: 0 Cov.: 36
GnomAD4 exome AF: 0.00000921 AC: 10AN: 1086118Hom.: 0 Cov.: 45 AF XY: 0.0000136 AC XY: 7AN XY: 514006
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151154Hom.: 0 Cov.: 36 AF XY: 0.00 AC XY: 0AN XY: 73798
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2018G>A (p.R673H) 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 2018, causing the arginine (R) at amino acid position 673 to be replaced by a histidine (H). 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