chr2-85435077-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001394463.1(SH2D6):c.602C>A(p.Ser201*) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000242 in 1,239,398 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. Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_001394463.1 stop_gained
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 |
---|---|---|---|---|---|---|---|---|
SH2D6 | NM_001394463.1 | c.602C>A | p.Ser201* | stop_gained | Exon 20 of 24 | ENST00000469800.7 | NP_001381392.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SH2D6 | ENST00000469800.7 | c.602C>A | p.Ser201* | stop_gained | Exon 20 of 24 | 3 | NM_001394463.1 | ENSP00000510308.1 |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD3 exomes AF: 0.00000408 AC: 1AN: 245172Hom.: 0 AF XY: 0.00000750 AC XY: 1AN XY: 133298
GnomAD4 exome AF: 0.00000242 AC: 3AN: 1239398Hom.: 0 Cov.: 37 AF XY: 0.00000489 AC XY: 3AN XY: 614014
GnomAD4 genome Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at