4-57015611-A-G
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_000938.3(POLR2B):c.1910A>G(p.Lys637Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000044 in 1,364,946 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000938.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
POLR2B | NM_000938.3 | c.1910A>G | p.Lys637Arg | missense_variant | Exon 14 of 25 | ENST00000314595.6 | NP_000929.1 | |
POLR2B | NM_001303269.2 | c.1889A>G | p.Lys630Arg | missense_variant | Exon 15 of 26 | NP_001290198.1 | ||
POLR2B | NM_001303268.2 | c.1685A>G | p.Lys562Arg | missense_variant | Exon 13 of 24 | NP_001290197.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000440 AC: 6AN: 1364946Hom.: 0 Cov.: 26 AF XY: 0.00000148 AC XY: 1AN XY: 677944
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1910A>G (p.K637R) alteration is located in exon 14 (coding exon 14) of the POLR2B gene. This alteration results from a A to G substitution at nucleotide position 1910, causing the lysine (K) at amino acid position 637 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at