chr12-111446814-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005475.3(SH2B3):c.794G>A(p.Arg265Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000265 in 1,581,586 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. R265R) has been classified as Benign.
Frequency
Consequence
NM_005475.3 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 | UniProt |
---|---|---|---|---|---|---|---|
SH2B3 | NM_005475.3 | c.794G>A | p.Arg265Gln | missense_variant | 3/8 | ENST00000341259.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SH2B3 | ENST00000341259.7 | c.794G>A | p.Arg265Gln | missense_variant | 3/8 | 1 | NM_005475.3 | P1 | |
SH2B3 | ENST00000538307.1 | c.188G>A | p.Arg63Gln | missense_variant | 2/7 | 2 | |||
ATXN2 | ENST00000642389.2 | c.*171-2627C>T | intron_variant, NMD_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.000315 AC: 48AN: 152154Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000140 AC: 32AN: 227774Hom.: 1 AF XY: 0.000132 AC XY: 16AN XY: 121414
GnomAD4 exome AF: 0.000260 AC: 371AN: 1429432Hom.: 1 Cov.: 33 AF XY: 0.000269 AC XY: 190AN XY: 706338
GnomAD4 genome AF: 0.000315 AC: 48AN: 152154Hom.: 0 Cov.: 31 AF XY: 0.000283 AC XY: 21AN XY: 74316
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Mendelics | May 04, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at