11-78220323-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_080491.3(GAB2):c.1883G>C(p.Arg628Pro) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,459,890 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R628H) has been classified as Uncertain significance.
Frequency
Consequence
NM_080491.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GAB2 | NM_080491.3 | c.1883G>C | p.Arg628Pro | missense_variant | 9/10 | ENST00000361507.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GAB2 | ENST00000361507.5 | c.1883G>C | p.Arg628Pro | missense_variant | 9/10 | 1 | NM_080491.3 | P1 | |
GAB2 | ENST00000340149.6 | c.1769G>C | p.Arg590Pro | missense_variant | 9/10 | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1459890Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 726230
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 15, 2021 | The c.1883G>C (p.R628P) alteration is located in exon 9 (coding exon 9) of the GAB2 gene. This alteration results from a G to C substitution at nucleotide position 1883, causing the arginine (R) at amino acid position 628 to be replaced by a proline (P). 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.