rs16994404
Variant summary
Our verdict is Benign. The variant received -11 ACMG points: 0P and 11B. BP4_ModerateBP7BA1
The NM_005069.6(SIM2):c.399C>T(p.His133His) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00797 in 1,613,212 control chromosomes in the GnomAD database, including 827 homozygotes. 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 synonymous
Scores
Clinical Significance
Conservation
Publications
Genome browser will be placed here
ACMG classification
Our verdict: Benign. The variant received -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SIM2 | NM_005069.6 | c.399C>T | p.His133His | synonymous_variant | Exon 4 of 11 | ENST00000290399.11 | NP_005060.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SIM2 | ENST00000290399.11 | c.399C>T | p.His133His | synonymous_variant | Exon 4 of 11 | 1 | NM_005069.6 | ENSP00000290399.6 | ||
SIM2 | ENST00000431229.1 | c.210C>T | p.His70His | synonymous_variant | Exon 3 of 10 | 1 | ENSP00000392003.1 | |||
SIM2 | ENST00000483178.2 | c.108C>T | p.His36His | synonymous_variant | Exon 2 of 2 | 3 | ENSP00000476273.1 | |||
SIM2 | ENST00000481185.1 | n.1012C>T | non_coding_transcript_exon_variant | Exon 4 of 10 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0406 AC: 6171AN: 151868Hom.: 422 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0112 AC: 2815AN: 251406 AF XY: 0.00835 show subpopulations
GnomAD4 exome AF: 0.00458 AC: 6690AN: 1461226Hom.: 405 Cov.: 31 AF XY: 0.00401 AC XY: 2912AN XY: 727002 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.0406 AC: 6175AN: 151986Hom.: 422 Cov.: 32 AF XY: 0.0395 AC XY: 2937AN XY: 74308 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at