rs777468144
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_001122681.2(SH3BP2):āc.410A>Cā(p.Asp137Ala) variant causes a missense change involving the alteration of a conserved nucleotide. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D137G) has been classified as Uncertain significance.
Frequency
Consequence
NM_001122681.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SH3BP2 | NM_001122681.2 | c.410A>C | p.Asp137Ala | missense_variant | 5/13 | ENST00000503393.8 | |
SH3BP2 | NM_001145856.2 | c.581A>C | p.Asp194Ala | missense_variant | 5/13 | ||
SH3BP2 | NM_001145855.2 | c.494A>C | p.Asp165Ala | missense_variant | 5/13 | ||
SH3BP2 | NM_003023.4 | c.410A>C | p.Asp137Ala | missense_variant | 5/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SH3BP2 | ENST00000503393.8 | c.410A>C | p.Asp137Ala | missense_variant | 5/13 | 1 | NM_001122681.2 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.00 AC: 1AN: 151868Hom.: 0 Cov.: 34 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000427 AC: 61AN: 1429466Hom.: 0 Cov.: 32 AF XY: 0.0000353 AC XY: 25AN XY: 708216
GnomAD4 genome ? Data not reliable, filtered out with message: AS_VQSR AF: 0.00000658 AC: 1AN: 151868Hom.: 0 Cov.: 34 AF XY: 0.0000135 AC XY: 1AN XY: 74156
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at