rs1053744
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_002972.4(SBF1):āc.5559T>Gā(p.Thr1853=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,708 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. Synonymous variant affecting the same amino acid position (i.e. T1853T) has been classified as Benign.
Frequency
Consequence
NM_002972.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SBF1 | NM_002972.4 | c.5559T>G | p.Thr1853= | synonymous_variant | 40/41 | ENST00000380817.8 | NP_002963.2 | |
SBF1 | NM_001410794.1 | c.5562T>G | p.Thr1854= | synonymous_variant | 40/41 | NP_001397723.1 | ||
SBF1 | NM_001365819.1 | c.5484T>G | p.Thr1828= | synonymous_variant | 39/40 | NP_001352748.1 | ||
SBF1 | NM_001410795.1 | c.5481T>G | p.Thr1827= | synonymous_variant | 39/40 | NP_001397724.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SBF1 | ENST00000380817.8 | c.5559T>G | p.Thr1853= | synonymous_variant | 40/41 | 1 | NM_002972.4 | ENSP00000370196 | P3 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461708Hom.: 0 Cov.: 51 AF XY: 0.00 AC XY: 0AN XY: 727150
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at