chr12-111446962-C-A
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_005475.3(SH2B3):c.855C>A(p.Ile285Ile) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,790 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.
Frequency
Consequence
NM_005475.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SH2B3 | ENST00000341259.7 | c.855C>A | p.Ile285Ile | synonymous_variant | Exon 4 of 8 | 1 | NM_005475.3 | ENSP00000345492.2 | ||
SH2B3 | ENST00000538307.1 | c.249C>A | p.Ile83Ile | synonymous_variant | Exon 3 of 7 | 2 | ENSP00000440597.1 | |||
ATXN2 | ENST00000642389.2 | n.*171-2775G>T | intron_variant | Intron 26 of 26 | ENSP00000496055.2 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461790Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 727202
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at