10-23095669-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000376510.8(MSRB2):c.61G>A(p.Val21Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000118 in 1,354,016 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
ENST00000376510.8 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MSRB2 | NM_012228.4 | c.61G>A | p.Val21Met | missense_variant | 1/5 | ENST00000376510.8 | NP_036360.3 | |
MSRB2 | XM_011519426.3 | c.61G>A | p.Val21Met | missense_variant | 1/4 | XP_011517728.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MSRB2 | ENST00000376510.8 | c.61G>A | p.Val21Met | missense_variant | 1/5 | 1 | NM_012228.4 | ENSP00000365693 | P1 | |
ENST00000655462.1 | n.116+38020C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.0000527 AC: 8AN: 151698Hom.: 0 Cov.: 30
GnomAD4 exome AF: 0.00000665 AC: 8AN: 1202318Hom.: 0 Cov.: 31 AF XY: 0.00000512 AC XY: 3AN XY: 585460
GnomAD4 genome AF: 0.0000527 AC: 8AN: 151698Hom.: 0 Cov.: 30 AF XY: 0.0000540 AC XY: 4AN XY: 74074
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 23, 2023 | The c.61G>A (p.V21M) alteration is located in exon 1 (coding exon 1) of the MSRB2 gene. This alteration results from a G to A substitution at nucleotide position 61, causing the valine (V) at amino acid position 21 to be replaced by a methionine (M). 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