X-148962726-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_002025.4(AFF2):c.2702C>G(p.Ser901Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000166 in 1,204,417 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S901Y) has been classified as Uncertain significance.
Frequency
Consequence
NM_002025.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AFF2 | NM_002025.4 | c.2702C>G | p.Ser901Cys | missense_variant | 13/21 | ENST00000370460.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AFF2 | ENST00000370460.7 | c.2702C>G | p.Ser901Cys | missense_variant | 13/21 | 5 | NM_002025.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000897 AC: 1AN: 111493Hom.: 0 Cov.: 23 AF XY: 0.0000297 AC XY: 1AN XY: 33681
GnomAD4 exome AF: 9.15e-7 AC: 1AN: 1092924Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 358904
GnomAD4 genome ? AF: 0.00000897 AC: 1AN: 111493Hom.: 0 Cov.: 23 AF XY: 0.0000297 AC XY: 1AN XY: 33681
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at