12-106357893-C-T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 1P and 10B. PP2BP4_StrongBP6_ModerateBS1
The NM_018082.6(POLR3B):c.14C>T(p.Ala5Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0002 in 1,613,642 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_018082.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
POLR3B | NM_018082.6 | c.14C>T | p.Ala5Val | missense_variant | 1/28 | ENST00000228347.9 | |
POLR3B | XM_017019621.3 | c.14C>T | p.Ala5Val | missense_variant | 1/26 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
POLR3B | ENST00000228347.9 | c.14C>T | p.Ala5Val | missense_variant | 1/28 | 1 | NM_018082.6 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000985 AC: 150AN: 152208Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000285 AC: 71AN: 249456Hom.: 0 AF XY: 0.000200 AC XY: 27AN XY: 135168
GnomAD4 exome AF: 0.000116 AC: 170AN: 1461316Hom.: 0 Cov.: 31 AF XY: 0.000102 AC XY: 74AN XY: 726934
GnomAD4 genome AF: 0.000998 AC: 152AN: 152326Hom.: 0 Cov.: 33 AF XY: 0.00103 AC XY: 77AN XY: 74494
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jun 04, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at