rs368734792
Variant summary
Our verdict is Pathogenic. Variant got 11 ACMG points: 11P and 0B. PVS1PM2PP5
The NM_000214.3(JAG1):c.2728G>T(p.Glu910*) variant causes a stop gained change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars). Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_000214.3 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 11 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
JAG1 | ENST00000254958.10 | c.2728G>T | p.Glu910* | stop_gained | Exon 23 of 26 | 1 | NM_000214.3 | ENSP00000254958.4 | ||
JAG1 | ENST00000423891.6 | n.2594G>T | non_coding_transcript_exon_variant | Exon 21 of 25 | 2 | |||||
JAG1 | ENST00000617965.2 | n.3317G>T | non_coding_transcript_exon_variant | Exon 17 of 17 | 5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
JAG1-related disorder Pathogenic:1
The JAG1 c.2728G>T variant is predicted to result in premature protein termination (p.Glu910*). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense and other loss-of-function variants in JAG1 are a commonly documented cause of disease (see for example Gilbert et al. 2019. PubMed ID: 31343788). This variant is interpreted as pathogenic. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.