rs776883744
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001365276.2(TNXB):c.5052C>T(p.Asp1684=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000687 in 1,456,208 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_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.5052C>T | p.Asp1684= | synonymous_variant | 14/44 | ENST00000644971.2 | |
TNXB | NM_019105.8 | c.5052C>T | p.Asp1684= | synonymous_variant | 14/44 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TNXB | ENST00000644971.2 | c.5052C>T | p.Asp1684= | synonymous_variant | 14/44 | NM_001365276.2 | |||
TNXB | ENST00000647633.1 | c.5793C>T | p.Asp1931= | synonymous_variant | 15/45 | P1 | |||
TNXB | ENST00000375244.7 | c.5052C>T | p.Asp1684= | synonymous_variant | 14/44 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 6.87e-7 AC: 1AN: 1456208Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 723986
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at