10-81875624-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001010848.4(NRG3):āc.284A>Gā(p.Lys95Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000182 in 1,613,708 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 (ā ).
Frequency
Consequence
NM_001010848.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NRG3 | NM_001010848.4 | c.284A>G | p.Lys95Arg | missense_variant | 1/9 | ENST00000372141.7 | NP_001010848.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NRG3 | ENST00000372141.7 | c.284A>G | p.Lys95Arg | missense_variant | 1/9 | 1 | NM_001010848.4 | ENSP00000361214.2 | ||
NRG3 | ENST00000404547.5 | c.284A>G | p.Lys95Arg | missense_variant | 1/10 | 1 | ENSP00000384796.1 |
Frequencies
GnomAD3 genomes AF: 0.0000987 AC: 15AN: 151992Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000759 AC: 19AN: 250170Hom.: 0 AF XY: 0.0000886 AC XY: 12AN XY: 135472
GnomAD4 exome AF: 0.000190 AC: 278AN: 1461598Hom.: 0 Cov.: 32 AF XY: 0.000182 AC XY: 132AN XY: 727112
GnomAD4 genome AF: 0.0000986 AC: 15AN: 152110Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74362
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 05, 2022 | The c.284A>G (p.K95R) alteration is located in exon 1 (coding exon 1) of the NRG3 gene. This alteration results from a A to G substitution at nucleotide position 284, causing the lysine (K) at amino acid position 95 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