4-143433625-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002039.4(GAB1):c.502C>A(p.Pro168Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0000291 in 1,613,856 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P168S) has been classified as Uncertain significance.
Frequency
Consequence
NM_002039.4 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 | UniProt |
---|---|---|---|---|---|---|---|
GAB1 | NM_002039.4 | c.502C>A | p.Pro168Thr | missense_variant | 3/10 | ENST00000262994.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GAB1 | ENST00000262994.9 | c.502C>A | p.Pro168Thr | missense_variant | 3/10 | 1 | NM_002039.4 | A1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152162Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000163 AC: 41AN: 251294Hom.: 0 AF XY: 0.000110 AC XY: 15AN XY: 135796
GnomAD4 exome AF: 0.0000308 AC: 45AN: 1461694Hom.: 0 Cov.: 32 AF XY: 0.0000275 AC XY: 20AN XY: 727160
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152162Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74338
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 12, 2024 | The c.502C>A (p.P168T) alteration is located in exon 3 (coding exon 3) of the GAB1 gene. This alteration results from a C to A substitution at nucleotide position 502, causing the proline (P) at amino acid position 168 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