8-143567270-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001100878.2(MROH6):c.2129G>A(p.Arg710His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000221 in 1,222,190 control chromosomes in the GnomAD database, including 3 homozygotes. 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. R710C) has been classified as Uncertain significance.
Frequency
Consequence
NM_001100878.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000336 AC: 51AN: 151764Hom.: 1 Cov.: 32
GnomAD4 exome AF: 0.000205 AC: 219AN: 1070320Hom.: 2 Cov.: 30 AF XY: 0.000226 AC XY: 114AN XY: 505334
GnomAD4 genome AF: 0.000336 AC: 51AN: 151870Hom.: 1 Cov.: 32 AF XY: 0.000418 AC XY: 31AN XY: 74226
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2129G>A (p.R710H) 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 2129, causing the arginine (R) at amino acid position 710 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