1-170971808-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001163629.2(MROH9):c.541C>T(p.His181Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000867 in 1,613,924 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_001163629.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MROH9 | NM_001163629.2 | c.541C>T | p.His181Tyr | missense_variant | Exon 8 of 22 | ENST00000367759.9 | NP_001157101.1 | |
MROH9 | NM_025063.4 | c.541C>T | p.His181Tyr | missense_variant | Exon 8 of 15 | NP_079339.2 | ||
MROH9 | XM_011510005.3 | c.541C>T | p.His181Tyr | missense_variant | Exon 8 of 21 | XP_011508307.1 | ||
MROH9 | XM_011510006.3 | c.541C>T | p.His181Tyr | missense_variant | Exon 8 of 21 | XP_011508308.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152162Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000821 AC: 12AN: 1461762Hom.: 0 Cov.: 31 AF XY: 0.00000963 AC XY: 7AN XY: 727178
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152162Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74332
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.541C>T (p.H181Y) alteration is located in exon 8 (coding exon 7) of the MROH9 gene. This alteration results from a C to T substitution at nucleotide position 541, causing the histidine (H) at amino acid position 181 to be replaced by a tyrosine (Y). 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