chr6-32044732-G-T
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Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_001365276.2(TNXB):c.10928-16C>A variant causes a splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. 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
Genomes: 𝑓 0.000018 ( 0 hom., cov: 7)
Exomes 𝑓: 0.0000044 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
TNXB
NM_001365276.2 splice_polypyrimidine_tract, intron
NM_001365276.2 splice_polypyrimidine_tract, intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.00400
Genes affected
TNXB (HGNC:11976): (tenascin XB) This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The tenascins have anti-adhesive effects, as opposed to fibronectin which is adhesive. This protein is thought to function in matrix maturation during wound healing, and its deficiency has been associated with the connective tissue disorder Ehlers-Danlos syndrome. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. It is one of four genes in this cluster which have been duplicated. The duplicated copy of this gene is incomplete and is a pseudogene which is transcribed but does not encode a protein. The structure of this gene is unusual in that it overlaps the CREBL1 and CYP21A2 genes at its 5' and 3' ends, respectively. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -4 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.81).
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TNXB | NM_001365276.2 | c.10928-16C>A | splice_polypyrimidine_tract_variant, intron_variant | ENST00000644971.2 | NP_001352205.1 | |||
TNXB | NM_019105.8 | c.10922-16C>A | splice_polypyrimidine_tract_variant, intron_variant | NP_061978.6 | ||||
TNXB | NM_032470.4 | c.215-16C>A | splice_polypyrimidine_tract_variant, intron_variant | NP_115859.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TNXB | ENST00000644971.2 | c.10928-16C>A | splice_polypyrimidine_tract_variant, intron_variant | NM_001365276.2 | ENSP00000496448 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 1AN: 55080Hom.: 0 Cov.: 7 FAILED QC
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GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000442 AC: 2AN: 452560Hom.: 0 Cov.: 0 AF XY: 0.00000418 AC XY: 1AN XY: 239290
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GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000182 AC: 1AN: 55080Hom.: 0 Cov.: 7 AF XY: 0.00 AC XY: 0AN XY: 24070
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ClinVar
Not reported inComputational scores
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Name
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at