chr6-32061428-G-C
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001365276.2(TNXB):c.7461C>G(p.Arg2487=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. R2487R) has been classified as Benign.
Frequency
Consequence
NM_001365276.2 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 | UniProt |
---|---|---|---|---|---|---|---|
TNXB | NM_001365276.2 | c.7461C>G | p.Arg2487= | synonymous_variant | 21/44 | ENST00000644971.2 | |
TNXB | NM_019105.8 | c.7461C>G | p.Arg2487= | synonymous_variant | 21/44 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TNXB | ENST00000644971.2 | c.7461C>G | p.Arg2487= | synonymous_variant | 21/44 | NM_001365276.2 | |||
TNXB | ENST00000647633.1 | c.8202C>G | p.Arg2734= | synonymous_variant | 22/45 | P1 | |||
TNXB | ENST00000375244.7 | c.7461C>G | p.Arg2487= | synonymous_variant | 21/44 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 37
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at