X-154695973-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001081573.3(GAB3):c.1474G>A(p.Ala492Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000369 in 1,084,318 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001081573.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GAB3 | NM_001081573.3 | c.1474G>A | p.Ala492Thr | missense_variant | 8/10 | ENST00000424127.3 | NP_001075042.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GAB3 | ENST00000424127.3 | c.1474G>A | p.Ala492Thr | missense_variant | 8/10 | 1 | NM_001081573.3 | ENSP00000399588 | A2 |
Frequencies
GnomAD3 genomes Cov.: 22
GnomAD4 exome AF: 0.00000369 AC: 4AN: 1084318Hom.: 0 Cov.: 25 AF XY: 0.00000285 AC XY: 1AN XY: 350700
GnomAD4 genome Cov.: 22
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 04, 2023 | The c.1474G>A (p.A492T) alteration is located in exon 8 (coding exon 8) of the GAB3 gene. This alteration results from a G to A substitution at nucleotide position 1474, causing the alanine (A) at amino acid position 492 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.