rs782696929
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_012309.5(SHANK2):āc.2292G>Cā(p.Ser764Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000689 in 1,450,634 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_012309.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SHANK2 | NM_012309.5 | c.2292G>C | p.Ser764Ser | synonymous_variant | 21/26 | ENST00000601538.6 | NP_036441.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SHANK2 | ENST00000601538.6 | c.2292G>C | p.Ser764Ser | synonymous_variant | 21/26 | 5 | NM_012309.5 | ENSP00000469689.2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000441 AC: 1AN: 226834Hom.: 0 AF XY: 0.00000811 AC XY: 1AN XY: 123356
GnomAD4 exome AF: 6.89e-7 AC: 1AN: 1450634Hom.: 0 Cov.: 31 AF XY: 0.00000139 AC XY: 1AN XY: 720424
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at