chr1-170983511-C-A
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_001163629.2(MROH9):c.706C>A(p.Gln236Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00852 in 1,611,656 control chromosomes in the GnomAD database, including 74 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001163629.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MROH9 | NM_001163629.2 | c.706C>A | p.Gln236Lys | missense_variant | Exon 9 of 22 | ENST00000367759.9 | NP_001157101.1 | |
MROH9 | NM_025063.4 | c.706C>A | p.Gln236Lys | missense_variant | Exon 9 of 15 | NP_079339.2 | ||
MROH9 | XM_011510005.3 | c.706C>A | p.Gln236Lys | missense_variant | Exon 9 of 21 | XP_011508307.1 | ||
MROH9 | XM_011510006.3 | c.706C>A | p.Gln236Lys | missense_variant | Exon 9 of 21 | XP_011508308.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00640 AC: 974AN: 152148Hom.: 6 Cov.: 33
GnomAD3 exomes AF: 0.00626 AC: 1556AN: 248634Hom.: 7 AF XY: 0.00642 AC XY: 866AN XY: 134934
GnomAD4 exome AF: 0.00874 AC: 12755AN: 1459390Hom.: 68 Cov.: 29 AF XY: 0.00869 AC XY: 6312AN XY: 726122
GnomAD4 genome AF: 0.00640 AC: 974AN: 152266Hom.: 6 Cov.: 33 AF XY: 0.00650 AC XY: 484AN XY: 74450
ClinVar
Submissions by phenotype
not provided Benign:1
MROH9: BP4, BS2 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at