chr11-78250429-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_080491.3(GAB2):c.377-29T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00361 in 1,603,300 control chromosomes in the GnomAD database, including 193 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. There are indicators that this mutation may affect the branch point..
Frequency
Consequence
NM_080491.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GAB2 | NM_080491.3 | c.377-29T>C | intron_variant | ENST00000361507.5 | NP_536739.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GAB2 | ENST00000361507.5 | c.377-29T>C | intron_variant | 1 | NM_080491.3 | ENSP00000354952.4 |
Frequencies
GnomAD3 genomes AF: 0.0194 AC: 2944AN: 152082Hom.: 106 Cov.: 31
GnomAD3 exomes AF: 0.00527 AC: 1317AN: 250118Hom.: 51 AF XY: 0.00395 AC XY: 535AN XY: 135298
GnomAD4 exome AF: 0.00195 AC: 2833AN: 1451100Hom.: 86 Cov.: 28 AF XY: 0.00168 AC XY: 1216AN XY: 722268
GnomAD4 genome AF: 0.0194 AC: 2959AN: 152200Hom.: 107 Cov.: 31 AF XY: 0.0187 AC XY: 1391AN XY: 74434
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at