rs5951676
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_004595.5(SMS):c.945+1487A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.136 in 112,061 control chromosomes in the GnomAD database, including 1,559 homozygotes. There are 4,266 hemizygotes in GnomAD. 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_004595.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SMS | NM_004595.5 | c.945+1487A>G | intron_variant | ENST00000404933.7 | |||
SMS | NM_001258423.2 | c.786+1487A>G | intron_variant | ||||
SMS | XM_005274582.3 | c.843+1487A>G | intron_variant | ||||
SMS | XM_011545568.3 | c.843+1487A>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SMS | ENST00000404933.7 | c.945+1487A>G | intron_variant | 1 | NM_004595.5 | P1 | |||
SMS | ENST00000379404.5 | c.786+1487A>G | intron_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.136 AC: 15236AN: 112006Hom.: 1556 Cov.: 24 AF XY: 0.124 AC XY: 4254AN XY: 34198
GnomAD4 genome ? AF: 0.136 AC: 15255AN: 112061Hom.: 1559 Cov.: 24 AF XY: 0.125 AC XY: 4266AN XY: 34263
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at