1-118884636-G-T
Variant summary
Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BP4_Strong
The NM_001330677.2(TBX15):c.*96C>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000727 in 972,736 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_001330677.2 3_prime_UTR
Scores
Clinical Significance
Conservation
Publications
- pelviscapular dysplasiaInheritance: AR Classification: DEFINITIVE, STRONG, SUPPORTIVE Submitted by: G2P, Labcorp Genetics (formerly Invitae), Orphanet
Genome browser will be placed here
ACMG classification
Our verdict: Likely_benign. The variant received -4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TBX15 | ENST00000369429.5 | c.*96C>A | 3_prime_UTR_variant | Exon 8 of 8 | 5 | NM_001330677.2 | ENSP00000358437.3 | |||
TBX15 | ENST00000207157.7 | c.*96C>A | 3_prime_UTR_variant | Exon 8 of 8 | 1 | ENSP00000207157.3 | ||||
TBX15 | ENST00000449873.5 | c.*96C>A | 3_prime_UTR_variant | Exon 4 of 4 | 5 | ENSP00000398625.1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.000727 AC: 707AN: 972736Hom.: 0 Cov.: 19 AF XY: 0.000671 AC XY: 334AN XY: 497606 show subpopulations ⚠️ The allele balance in gnomAD version 4 Exomes is significantly skewed from the expected value of 0.5.
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at