rs758073507
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 5P and 2B. PM2PP2PP3_ModerateBP6_Moderate
The NM_017617.5(NOTCH1):c.2318G>T(p.Ser773Ile) variant causes a missense change. The variant allele was found at a frequency of 0.000000685 in 1,460,660 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S773N) has been classified as Uncertain significance.
Frequency
Consequence
NM_017617.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NOTCH1 | NM_017617.5 | c.2318G>T | p.Ser773Ile | missense_variant | 14/34 | ENST00000651671.1 | |
LOC124902310 | XR_007061865.1 | n.507+3448C>A | intron_variant, non_coding_transcript_variant | ||||
NOTCH1 | XM_011518717.3 | c.1595G>T | p.Ser532Ile | missense_variant | 11/31 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NOTCH1 | ENST00000651671.1 | c.2318G>T | p.Ser773Ile | missense_variant | 14/34 | NM_017617.5 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000403 AC: 1AN: 247978Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135086
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460660Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 726618
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Adams-Oliver syndrome 5 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jun 27, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at