chr9-129803346-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_014506.3(TOR1B):c.134C>T(p.Ser45Phe) variant causes a missense change. The variant allele was found at a frequency of 0.00000696 in 1,436,876 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014506.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TOR1B | ENST00000259339.7 | c.134C>T | p.Ser45Phe | missense_variant | Exon 1 of 5 | 1 | NM_014506.3 | ENSP00000259339.2 | ||
TOR1B | ENST00000427860.1 | c.77C>T | p.Ser26Phe | missense_variant | Exon 1 of 3 | 3 | ENSP00000411912.1 | |||
TOR1B | ENST00000486372.1 | n.190C>T | non_coding_transcript_exon_variant | Exon 1 of 2 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000696 AC: 10AN: 1436876Hom.: 0 Cov.: 32 AF XY: 0.00000699 AC XY: 5AN XY: 715016
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.134C>T (p.S45F) alteration is located in exon 1 (coding exon 1) of the TOR1B gene. This alteration results from a C to T substitution at nucleotide position 134, causing the serine (S) at amino acid position 45 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.