chr3-196371927-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP4_Moderate
The NM_015562.2(UBXN7):c.584A>G(p.Asn195Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,460,906 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015562.2 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
UBXN7 | NM_015562.2 | c.584A>G | p.Asn195Ser | missense_variant | 6/11 | ENST00000296328.9 | |
UBXN7 | XM_011512671.3 | c.140A>G | p.Asn47Ser | missense_variant | 5/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UBXN7 | ENST00000296328.9 | c.584A>G | p.Asn195Ser | missense_variant | 6/11 | 1 | NM_015562.2 | P1 | |
UBXN7 | ENST00000428095.1 | c.98A>G | p.Asn33Ser | missense_variant | 2/7 | 1 | |||
UBXN7 | ENST00000429160.1 | c.*208A>G | 3_prime_UTR_variant, NMD_transcript_variant | 5/10 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460906Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 726768
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 14, 2022 | The c.584A>G (p.N195S) alteration is located in exon 6 (coding exon 6) of the UBXN7 gene. This alteration results from a A to G substitution at nucleotide position 584, causing the asparagine (N) at amino acid position 195 to be replaced by a serine (S). 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
Publications
No publications associated with this variant yet.