chr19-15180783-G-C
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM1PM2PM5
The NM_000435.3(NOTCH3):āc.3040C>Gā(p.Arg1014Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,456,730 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R1014C) 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 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NOTCH3 | NM_000435.3 | c.3040C>G | p.Arg1014Gly | missense_variant | 19/33 | ENST00000263388.7 | |
NOTCH3 | XM_005259924.5 | c.2884C>G | p.Arg962Gly | missense_variant | 18/32 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NOTCH3 | ENST00000263388.7 | c.3040C>G | p.Arg1014Gly | missense_variant | 19/33 | 1 | NM_000435.3 | P1 | |
NOTCH3 | ENST00000601011.1 | c.2881C>G | p.Arg961Gly | missense_variant | 18/23 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000418 AC: 1AN: 239520Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 129626
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1456730Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 724000
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at