rs202238128
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001387276.1(MXRA7):āc.728G>Cā(p.Arg243Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152,254 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R243Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_001387276.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MXRA7 | NM_001387276.1 | c.728G>C | p.Arg243Pro | missense_variant | Exon 3 of 3 | NP_001374205.1 | ||
MXRA7 | NM_001008528.3 | c.599G>C | p.Arg200Pro | missense_variant | Exon 4 of 4 | NP_001008528.1 | ||
MXRA7 | NM_001387278.1 | c.506G>C | p.Arg169Pro | missense_variant | Exon 4 of 4 | NP_001374207.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152254Hom.: 0 Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152254Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74382
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at