NM_001163629.2:c.581T>C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001163629.2(MROH9):c.581T>C(p.Met194Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000898 in 1,613,940 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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 (★).
Frequency
Consequence
NM_001163629.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MROH9 | NM_001163629.2 | c.581T>C | p.Met194Thr | missense_variant | Exon 8 of 22 | ENST00000367759.9 | NP_001157101.1 | |
MROH9 | NM_025063.4 | c.581T>C | p.Met194Thr | missense_variant | Exon 8 of 15 | NP_079339.2 | ||
MROH9 | XM_011510005.3 | c.581T>C | p.Met194Thr | missense_variant | Exon 8 of 21 | XP_011508307.1 | ||
MROH9 | XM_011510006.3 | c.581T>C | p.Met194Thr | missense_variant | Exon 8 of 21 | XP_011508308.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152174Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 249416Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135308
GnomAD4 exome AF: 0.0000965 AC: 141AN: 1461766Hom.: 0 Cov.: 31 AF XY: 0.0000976 AC XY: 71AN XY: 727172
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152174Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74334
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.581T>C (p.M194T) alteration is located in exon 8 (coding exon 7) of the MROH9 gene. This alteration results from a T to C substitution at nucleotide position 581, causing the methionine (M) at amino acid position 194 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