rs118204034
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001039958.2(MESP2):c.241G>A(p.Gly81Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000364 in 1,372,026 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. G81G) has been classified as Likely benign.
Frequency
Consequence
NM_001039958.2 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MESP2 | NM_001039958.2 | c.241G>A | p.Gly81Arg | missense_variant | 1/2 | ENST00000341735.5 | |
LOC124903550 | XR_007064751.1 | n.12C>T | non_coding_transcript_exon_variant | 1/2 | |||
LOC124903550 | XR_007064752.1 | upstream_gene_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MESP2 | ENST00000341735.5 | c.241G>A | p.Gly81Arg | missense_variant | 1/2 | 1 | NM_001039958.2 | P1 | |
MESP2 | ENST00000560219.2 | c.31-1467G>A | intron_variant | 1 | |||||
MESP2 | ENST00000558723.1 | n.39-1467G>A | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000842 AC: 1AN: 118804Hom.: 0 AF XY: 0.0000151 AC XY: 1AN XY: 66398
GnomAD4 exome AF: 0.00000364 AC: 5AN: 1372026Hom.: 0 Cov.: 31 AF XY: 0.00000443 AC XY: 3AN XY: 677204
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at