7-16308521-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PVS1_ModeratePM2
The NM_001101426.4(CRPPA):c.789+2T>C variant causes a splice donor, intron change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000143 in 1,402,464 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 2/3 splice prediction tools predicting alterations to normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001101426.4 splice_donor, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CRPPA | NM_001101426.4 | c.789+2T>C | splice_donor_variant, intron_variant | Intron 4 of 9 | ENST00000407010.7 | NP_001094896.1 | ||
CRPPA | NM_001368197.1 | c.685-7055T>C | intron_variant | Intron 3 of 8 | NP_001355126.1 | |||
CRPPA | NM_001101417.4 | c.639+2T>C | splice_donor_variant, intron_variant | Intron 3 of 8 | NP_001094887.1 | |||
CRPPA | NR_160656.1 | n.901-30295T>C | intron_variant | Intron 3 of 7 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000143 AC: 2AN: 1402464Hom.: 0 Cov.: 25 AF XY: 0.00 AC XY: 0AN XY: 699716
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.