rs2287867
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001220500.2(FCER2):c.-85-10C>T variant causes a splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.541 in 1,221,064 control chromosomes in the GnomAD database, including 179,865 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.
Frequency
Consequence
NM_001220500.2 splice_polypyrimidine_tract, 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 | UniProt |
---|---|---|---|---|---|---|---|
FCER2 | NM_001220500.2 | c.-85-10C>T | splice_polypyrimidine_tract_variant, intron_variant | ENST00000597921.6 | |||
FCER2 | NM_002002.5 | c.-85-10C>T | splice_polypyrimidine_tract_variant, intron_variant | ||||
FCER2 | XM_005272462.5 | c.-81-14C>T | splice_polypyrimidine_tract_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FCER2 | ENST00000597921.6 | c.-85-10C>T | splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_001220500.2 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.504 AC: 76487AN: 151880Hom.: 19835 Cov.: 31
GnomAD4 exome AF: 0.546 AC: 583610AN: 1069066Hom.: 160004 Cov.: 14 AF XY: 0.548 AC XY: 299545AN XY: 546256
GnomAD4 genome ? AF: 0.504 AC: 76555AN: 151998Hom.: 19861 Cov.: 31 AF XY: 0.507 AC XY: 37681AN XY: 74282
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at