1-1354483-C-A
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_032348.4(MXRA8):c.976G>T(p.Val326Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000257 in 1,612,250 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_032348.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MXRA8 | NM_032348.4 | c.976G>T | p.Val326Phe | missense_variant | Exon 6 of 10 | ENST00000309212.11 | NP_115724.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000388 AC: 59AN: 152204Hom.: 1 Cov.: 34
GnomAD3 exomes AF: 0.000778 AC: 189AN: 242920Hom.: 0 AF XY: 0.000634 AC XY: 84AN XY: 132420
GnomAD4 exome AF: 0.000244 AC: 356AN: 1459928Hom.: 2 Cov.: 77 AF XY: 0.000257 AC XY: 187AN XY: 726242
GnomAD4 genome AF: 0.000387 AC: 59AN: 152322Hom.: 1 Cov.: 34 AF XY: 0.000389 AC XY: 29AN XY: 74502
ClinVar
Submissions by phenotype
MXRA8-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at