21-36726260-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_005069.6(SIM2):āc.685A>Gā(p.Ser229Gly) variant causes a missense change. The variant allele was found at a frequency of 0.000026 in 1,613,668 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_005069.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SIM2 | NM_005069.6 | c.685A>G | p.Ser229Gly | missense_variant | Exon 6 of 11 | ENST00000290399.11 | NP_005060.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SIM2 | ENST00000290399.11 | c.685A>G | p.Ser229Gly | missense_variant | Exon 6 of 11 | 1 | NM_005069.6 | ENSP00000290399.6 | ||
SIM2 | ENST00000431229.1 | c.496A>G | p.Ser166Gly | missense_variant | Exon 5 of 10 | 1 | ENSP00000392003.1 | |||
SIM2 | ENST00000481185.1 | n.1298A>G | non_coding_transcript_exon_variant | Exon 6 of 10 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152194Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251186Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135770
GnomAD4 exome AF: 0.0000219 AC: 32AN: 1461474Hom.: 0 Cov.: 31 AF XY: 0.0000220 AC XY: 16AN XY: 727030
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152194Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74346
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.685A>G (p.S229G) alteration is located in exon 6 (coding exon 6) of the SIM2 gene. This alteration results from a A to G substitution at nucleotide position 685, causing the serine (S) at amino acid position 229 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at