19-15177737-C-T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP7BS2
The ENST00000263388.7(NOTCH3):c.4191G>A(p.Gly1397=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00001 in 1,496,950 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. G1397G) has been classified as Likely benign.
Frequency
Consequence
ENST00000263388.7 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NOTCH3 | NM_000435.3 | c.4191G>A | p.Gly1397= | synonymous_variant | 24/33 | ENST00000263388.7 | NP_000426.2 | |
NOTCH3 | XM_005259924.5 | c.4035G>A | p.Gly1345= | synonymous_variant | 23/32 | XP_005259981.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NOTCH3 | ENST00000263388.7 | c.4191G>A | p.Gly1397= | synonymous_variant | 24/33 | 1 | NM_000435.3 | ENSP00000263388 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000264 AC: 4AN: 151796Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000105 AC: 1AN: 95138Hom.: 0 AF XY: 0.0000187 AC XY: 1AN XY: 53540
GnomAD4 exome AF: 0.00000818 AC: 11AN: 1345154Hom.: 0 Cov.: 33 AF XY: 0.00000755 AC XY: 5AN XY: 662482
GnomAD4 genome AF: 0.0000264 AC: 4AN: 151796Hom.: 0 Cov.: 31 AF XY: 0.0000539 AC XY: 4AN XY: 74162
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at