11-67995768-C-T
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_StrongBP6_ModerateBP7
The NM_030930.4(UNC93B1):c.1206G>A(p.Pro402=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000344 in 1,395,552 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. P402P) has been classified as Benign.
Frequency
Consequence
NM_030930.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
UNC93B1 | NM_030930.4 | c.1206G>A | p.Pro402= | synonymous_variant | 9/11 | ENST00000227471.7 | |
UNC93B1 | XM_011545290.1 | c.795G>A | p.Pro265= | synonymous_variant | 7/9 | ||
UNC93B1 | XM_011545291.3 | c.651G>A | p.Pro217= | synonymous_variant | 6/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UNC93B1 | ENST00000227471.7 | c.1206G>A | p.Pro402= | synonymous_variant | 9/11 | 1 | NM_030930.4 | P1 | |
UNC93B1 | ENST00000525368.1 | n.213G>A | non_coding_transcript_exon_variant | 1/3 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 7AN: 151754Hom.: 0 Cov.: 29 FAILED QC
GnomAD3 exomes AF: 0.0000467 AC: 7AN: 149964Hom.: 0 AF XY: 0.0000248 AC XY: 2AN XY: 80652
GnomAD4 exome AF: 0.0000344 AC: 48AN: 1395552Hom.: 0 Cov.: 36 AF XY: 0.0000276 AC XY: 19AN XY: 688396
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000461 AC: 7AN: 151754Hom.: 0 Cov.: 29 AF XY: 0.0000540 AC XY: 4AN XY: 74100
ClinVar
Submissions by phenotype
Herpes simplex encephalitis, susceptibility to, 1 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 04, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at