NM_001365276.2:c.1101C>A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001365276.2(TNXB):c.1101C>A(p.Asp367Glu) variant causes a missense change. 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. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Uncertain significance in ClinVar. Synonymous variant affecting the same amino acid position (i.e. D367D) has been classified as Likely benign.
Frequency
Consequence
NM_001365276.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TNXB | NM_001365276.2 | c.1101C>A | p.Asp367Glu | missense_variant | Exon 3 of 44 | ENST00000644971.2 | NP_001352205.1 | |
TNXB | NM_001428335.1 | c.1101C>A | p.Asp367Glu | missense_variant | Exon 3 of 45 | NP_001415264.1 | ||
TNXB | NM_019105.8 | c.1101C>A | p.Asp367Glu | missense_variant | Exon 3 of 44 | NP_061978.6 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1404146Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 693682
GnomAD4 genome Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at