14-93207314-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_175748.4(UBR7):c.23C>T(p.Ala8Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000712 in 1,405,144 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A8D) has been classified as Uncertain significance.
Frequency
Consequence
NM_175748.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UBR7 | NM_175748.4 | c.23C>T | p.Ala8Val | missense_variant | Exon 1 of 11 | ENST00000013070.11 | NP_786924.2 | |
UBR7 | NR_038150.2 | n.59C>T | non_coding_transcript_exon_variant | Exon 1 of 10 | ||||
GON7 | NM_032490.5 | c.-277G>A | upstream_gene_variant | ENST00000306954.5 | NP_115879.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UBR7 | ENST00000013070.11 | c.23C>T | p.Ala8Val | missense_variant | Exon 1 of 11 | 1 | NM_175748.4 | ENSP00000013070.6 | ||
ENSG00000259066 | ENST00000557574.1 | c.208-2510C>T | intron_variant | Intron 2 of 4 | 4 | ENSP00000451369.1 | ||||
GON7 | ENST00000306954.5 | c.-277G>A | upstream_gene_variant | 1 | NM_032490.5 | ENSP00000306320.4 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000712 AC: 10AN: 1405144Hom.: 0 Cov.: 33 AF XY: 0.00000865 AC XY: 6AN XY: 693612
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at