rs1554624100
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003070.5(SMARCA2):c.2853G>A(p.Lys951Lys) variant causes a synonymous change. The variant allele was found at a frequency of 0.000000694 in 1,441,328 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_003070.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SMARCA2 | NM_003070.5 | c.2853G>A | p.Lys951Lys | synonymous_variant | Exon 19 of 34 | ENST00000349721.8 | NP_003061.3 | |
SMARCA2 | NM_001289396.2 | c.2853G>A | p.Lys951Lys | synonymous_variant | Exon 19 of 34 | NP_001276325.1 | ||
SMARCA2 | NM_139045.4 | c.2853G>A | p.Lys951Lys | synonymous_variant | Exon 19 of 33 | NP_620614.2 | ||
SMARCA2 | NM_001289397.2 | c.2679G>A | p.Lys893Lys | synonymous_variant | Exon 19 of 33 | NP_001276326.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.94e-7 AC: 1AN: 1441328Hom.: 0 Cov.: 30 AF XY: 0.00000140 AC XY: 1AN XY: 716374
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.