chr1-107056729-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018137.3(PRMT6):āc.14A>Gā(p.Lys5Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000183 in 1,525,896 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_018137.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PRMT6 | NM_018137.3 | c.14A>G | p.Lys5Arg | missense_variant | 1/1 | ENST00000370078.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PRMT6 | ENST00000370078.2 | c.14A>G | p.Lys5Arg | missense_variant | 1/1 | NM_018137.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000118 AC: 18AN: 152208Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000728 AC: 10AN: 1373688Hom.: 1 Cov.: 31 AF XY: 0.00000741 AC XY: 5AN XY: 675088
GnomAD4 genome AF: 0.000118 AC: 18AN: 152208Hom.: 0 Cov.: 33 AF XY: 0.000121 AC XY: 9AN XY: 74366
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 25, 2022 | The c.14A>G (p.K5R) alteration is located in exon 1 (coding exon 1) of the PRMT6 gene. This alteration results from a A to G substitution at nucleotide position 14, causing the lysine (K) at amino acid position 5 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