rs1555727944
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM1PM5PP3_Strong
The NM_000435.3(NOTCH3):c.3011G>T(p.Cys1004Phe) variant causes a missense change. In-silico tool predicts a pathogenic 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. C1004Y) has been classified as Pathogenic.
Frequency
Consequence
NM_000435.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NOTCH3 | NM_000435.3 | c.3011G>T | p.Cys1004Phe | missense_variant | 19/33 | ENST00000263388.7 | |
NOTCH3 | XM_005259924.5 | c.2855G>T | p.Cys952Phe | missense_variant | 18/32 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NOTCH3 | ENST00000263388.7 | c.3011G>T | p.Cys1004Phe | missense_variant | 19/33 | 1 | NM_000435.3 | P1 | |
NOTCH3 | ENST00000601011.1 | c.2852G>T | p.Cys951Phe | missense_variant | 18/23 | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1459614Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 725876
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.