rs200930438
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 0P and 15B. BP4_StrongBP6_ModerateBP7BS1BS2
The NM_030930.4(UNC93B1):c.1155C>T(p.Gly385=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0021 in 1,545,570 control chromosomes in the GnomAD database, including 19 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Synonymous variant affecting the same amino acid position (i.e. G385G) 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.1155C>T | p.Gly385= | synonymous_variant | 9/11 | ENST00000227471.7 | |
UNC93B1 | XM_011545290.1 | c.744C>T | p.Gly248= | synonymous_variant | 7/9 | ||
UNC93B1 | XM_011545291.3 | c.600C>T | p.Gly200= | synonymous_variant | 6/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UNC93B1 | ENST00000227471.7 | c.1155C>T | p.Gly385= | synonymous_variant | 9/11 | 1 | NM_030930.4 | P1 | |
UNC93B1 | ENST00000525368.1 | n.162C>T | non_coding_transcript_exon_variant | 1/3 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00782 AC: 1188AN: 151924Hom.: 9 Cov.: 29
GnomAD3 exomes AF: 0.00223 AC: 320AN: 143714Hom.: 2 AF XY: 0.00171 AC XY: 133AN XY: 77564
GnomAD4 exome AF: 0.00148 AC: 2060AN: 1393530Hom.: 10 Cov.: 36 AF XY: 0.00135 AC XY: 930AN XY: 687270
GnomAD4 genome AF: 0.00783 AC: 1191AN: 152040Hom.: 9 Cov.: 29 AF XY: 0.00762 AC XY: 566AN XY: 74314
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