6-32053578-G-C
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001365276.2(TNXB):āc.8601C>Gā(p.Pro2867Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,461,376 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. P2867P) has been classified as Benign.
Frequency
Consequence
NM_001365276.2 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TNXB | NM_001365276.2 | c.8601C>G | p.Pro2867Pro | synonymous_variant | Exon 25 of 44 | ENST00000644971.2 | NP_001352205.1 | |
TNXB | NM_001428335.1 | c.9342C>G | p.Pro3114Pro | synonymous_variant | Exon 26 of 45 | NP_001415264.1 | ||
TNXB | NM_019105.8 | c.8595C>G | p.Pro2865Pro | synonymous_variant | Exon 25 of 44 | NP_061978.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TNXB | ENST00000644971.2 | c.8601C>G | p.Pro2867Pro | synonymous_variant | Exon 25 of 44 | NM_001365276.2 | ENSP00000496448.1 | |||
TNXB | ENST00000647633.1 | c.9342C>G | p.Pro3114Pro | synonymous_variant | Exon 26 of 45 | ENSP00000497649.1 | ||||
TNXB | ENST00000375244.7 | c.8601C>G | p.Pro2867Pro | synonymous_variant | Exon 25 of 44 | 5 | ENSP00000364393.3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000810 AC: 2AN: 246948Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134438
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461376Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 726982
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at