rs144399212
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_030930.4(UNC93B1):c.626C>T(p.Pro209Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00295 in 1,613,944 control chromosomes in the GnomAD database, including 24 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Synonymous variant affecting the same amino acid position (i.e. P209P) has been classified as Likely benign.
Frequency
Consequence
NM_030930.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
UNC93B1 | NM_030930.4 | c.626C>T | p.Pro209Leu | missense_variant | 5/11 | ENST00000227471.7 | |
UNC93B1 | XM_011545290.1 | c.215C>T | p.Pro72Leu | missense_variant | 3/9 | ||
UNC93B1 | XM_011545291.3 | c.71C>T | p.Pro24Leu | missense_variant | 2/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UNC93B1 | ENST00000227471.7 | c.626C>T | p.Pro209Leu | missense_variant | 5/11 | 1 | NM_030930.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00288 AC: 438AN: 152254Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.00388 AC: 965AN: 248952Hom.: 5 AF XY: 0.00417 AC XY: 563AN XY: 135150
GnomAD4 exome AF: 0.00296 AC: 4328AN: 1461572Hom.: 23 Cov.: 32 AF XY: 0.00319 AC XY: 2317AN XY: 727070
GnomAD4 genome AF: 0.00288 AC: 439AN: 152372Hom.: 1 Cov.: 33 AF XY: 0.00310 AC XY: 231AN XY: 74500
ClinVar
Submissions by phenotype
Herpes simplex encephalitis, susceptibility to, 1 Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 26, 2024 | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Jul 01, 2024 | UNC93B1: BS2 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at