rs17781919
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_001005743.2(NUMB):c.1784G>A(p.Gly595Asp) variant causes a missense change. The variant allele was found at a frequency of 0.0342 in 1,614,114 control chromosomes in the GnomAD database, including 1,100 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001005743.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NUMB | NM_001005743.2 | c.1784G>A | p.Gly595Asp | missense_variant | 13/13 | ENST00000555238.6 | NP_001005743.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NUMB | ENST00000555238.6 | c.1784G>A | p.Gly595Asp | missense_variant | 13/13 | 1 | NM_001005743.2 | ENSP00000451300.1 |
Frequencies
GnomAD3 genomes AF: 0.0248 AC: 3772AN: 152130Hom.: 68 Cov.: 32
GnomAD3 exomes AF: 0.0247 AC: 6208AN: 251434Hom.: 111 AF XY: 0.0251 AC XY: 3411AN XY: 135898
GnomAD4 exome AF: 0.0351 AC: 51375AN: 1461866Hom.: 1032 Cov.: 32 AF XY: 0.0344 AC XY: 25002AN XY: 727234
GnomAD4 genome AF: 0.0248 AC: 3773AN: 152248Hom.: 68 Cov.: 32 AF XY: 0.0237 AC XY: 1767AN XY: 74454
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at