chr19-4446397-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_025241.3(UBXN6):c.937C>T(p.Arg313Trp) variant causes a missense change. The variant allele was found at a frequency of 0.0000209 in 1,578,534 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R313L) has been classified as Uncertain significance.
Frequency
Consequence
NM_025241.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
UBXN6 | NM_025241.3 | c.937C>T | p.Arg313Trp | missense_variant | 9/11 | ENST00000301281.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UBXN6 | ENST00000301281.11 | c.937C>T | p.Arg313Trp | missense_variant | 9/11 | 1 | NM_025241.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152198Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000104 AC: 2AN: 192496Hom.: 0 AF XY: 0.0000188 AC XY: 2AN XY: 106126
GnomAD4 exome AF: 0.0000217 AC: 31AN: 1426218Hom.: 0 Cov.: 32 AF XY: 0.0000226 AC XY: 16AN XY: 708534
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152316Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74490
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 30, 2024 | The c.937C>T (p.R313W) alteration is located in exon 9 (coding exon 9) of the UBXN6 gene. This alteration results from a C to T substitution at nucleotide position 937, causing the arginine (R) at amino acid position 313 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at