rs112284414
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 0P and 15B. BP4_StrongBP6_ModerateBP7BA1
The NM_030930.4(UNC93B1):āc.1206G>Cā(p.Pro402=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.012 in 1,547,488 control chromosomes in the GnomAD database, including 511 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ). Synonymous variant affecting the same amino acid position (i.e. P402P) has been classified as Likely benign.
Frequency
Consequence
NM_030930.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
UNC93B1 | NM_030930.4 | c.1206G>C | p.Pro402= | synonymous_variant | 9/11 | ENST00000227471.7 | |
UNC93B1 | XM_011545290.1 | c.795G>C | p.Pro265= | synonymous_variant | 7/9 | ||
UNC93B1 | XM_011545291.3 | c.651G>C | p.Pro217= | synonymous_variant | 6/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UNC93B1 | ENST00000227471.7 | c.1206G>C | p.Pro402= | synonymous_variant | 9/11 | 1 | NM_030930.4 | P1 | |
UNC93B1 | ENST00000525368.1 | n.213G>C | non_coding_transcript_exon_variant | 1/3 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0262 AC: 3975AN: 151758Hom.: 138 Cov.: 29
GnomAD3 exomes AF: 0.0182 AC: 2736AN: 149964Hom.: 87 AF XY: 0.0213 AC XY: 1718AN XY: 80652
GnomAD4 exome AF: 0.0104 AC: 14518AN: 1395612Hom.: 372 Cov.: 36 AF XY: 0.0120 AC XY: 8257AN XY: 688416
GnomAD4 genome AF: 0.0263 AC: 3999AN: 151876Hom.: 139 Cov.: 29 AF XY: 0.0261 AC XY: 1940AN XY: 74228
ClinVar
Submissions by phenotype
Herpes simplex encephalitis, susceptibility to, 1 Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at