9-136519469-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP4_Moderate
The NM_017617.5(NOTCH1):āc.839A>Cā(p.Asn280Thr) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. N280S) has been classified as Likely benign.
Frequency
Consequence
NM_017617.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NOTCH1 | NM_017617.5 | c.839A>C | p.Asn280Thr | missense_variant | 5/34 | ENST00000651671.1 | |
LOC124902310 | XR_007061865.1 | n.508-3849T>G | intron_variant, non_coding_transcript_variant | ||||
NOTCH1 | XM_011518717.3 | c.116A>C | p.Asn39Thr | missense_variant | 2/31 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NOTCH1 | ENST00000651671.1 | c.839A>C | p.Asn280Thr | missense_variant | 5/34 | NM_017617.5 | P1 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD3 exomes AF: 0.000280 AC: 69AN: 246648Hom.: 0 AF XY: 0.000215 AC XY: 29AN XY: 134688
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000233 AC: 34AN: 1460154Hom.: 0 Cov.: 32 AF XY: 0.0000248 AC XY: 18AN XY: 726366
GnomAD4 genome Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at