rs13335818
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_003361.4(UMOD):c.792G>T(p.Val264=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000275 in 1,456,366 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. V264V) has been classified as Benign.
Frequency
Consequence
NM_003361.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
UMOD | NM_003361.4 | c.792G>T | p.Val264= | synonymous_variant | 3/11 | ENST00000396138.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UMOD | ENST00000396138.9 | c.792G>T | p.Val264= | synonymous_variant | 3/11 | 5 | NM_003361.4 | P2 | |
UMOD | ENST00000396134.6 | c.891G>T | p.Val297= | synonymous_variant | 4/12 | 2 | A2 | ||
UMOD | ENST00000570689.5 | c.792G>T | p.Val264= | synonymous_variant | 3/11 | 5 | P2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 0.00000275 AC: 4AN: 1456366Hom.: 0 Cov.: 36 AF XY: 0.00000138 AC XY: 1AN XY: 724556
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at