chr4-128872081-G-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_199320.4(JADE1):c.2348G>A(p.Arg783Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000889 in 1,461,798 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 (★).
Frequency
Consequence
NM_199320.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
JADE1 | NM_199320.4 | c.2348G>A | p.Arg783Gln | missense_variant | 11/11 | ENST00000226319.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
JADE1 | ENST00000226319.11 | c.2348G>A | p.Arg783Gln | missense_variant | 11/11 | 5 | NM_199320.4 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 250844Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135568
GnomAD4 exome AF: 0.00000889 AC: 13AN: 1461798Hom.: 0 Cov.: 32 AF XY: 0.00000963 AC XY: 7AN XY: 727196
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 17, 2021 | The c.2348G>A (p.R783Q) alteration is located in exon 11 (coding exon 10) of the JADE1 gene. This alteration results from a G to A substitution at nucleotide position 2348, causing the arginine (R) at amino acid position 783 to be replaced by a glutamine (Q). 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