rs9268368
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001286474.2(TSBP1):āc.206A>Gā(p.Tyr69Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.384 in 1,597,968 control chromosomes in the GnomAD database, including 123,655 homozygotes. In-silico tool predicts a benign outcome for this variant. 10/13 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001286474.2 missense
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 |
---|---|---|---|---|---|---|---|
TSBP1 | NM_001286474.2 | c.206A>G | p.Tyr69Cys | missense_variant | 6/26 | ENST00000533191.6 | |
TSBP1-AS1 | NR_136245.1 | n.302+339T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TSBP1 | ENST00000533191.6 | c.206A>G | p.Tyr69Cys | missense_variant | 6/26 | 1 | NM_001286474.2 | A2 | |
TSBP1-AS1 | ENST00000645134.1 | n.88-24036T>C | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.337 AC: 51156AN: 151990Hom.: 9657 Cov.: 32
GnomAD3 exomes AF: 0.415 AC: 98443AN: 237068Hom.: 21907 AF XY: 0.420 AC XY: 54398AN XY: 129616
GnomAD4 exome AF: 0.389 AC: 562733AN: 1445860Hom.: 113982 Cov.: 34 AF XY: 0.394 AC XY: 283023AN XY: 718704
GnomAD4 genome ? AF: 0.337 AC: 51188AN: 152108Hom.: 9673 Cov.: 32 AF XY: 0.337 AC XY: 25041AN XY: 74358
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at