12-47741043-G-A
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_001098531.4(RAPGEF3):c.1924-3C>T variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00622 in 1,612,162 control chromosomes in the GnomAD database, including 59 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_001098531.4 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RAPGEF3 | NM_001098531.4 | c.1924-3C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000449771.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RAPGEF3 | ENST00000449771.7 | c.1924-3C>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 2 | NM_001098531.4 | P4 | |||
RPAP3-DT | ENST00000547799.5 | n.2048G>A | non_coding_transcript_exon_variant | 6/6 | 5 |
Frequencies
GnomAD3 genomes AF: 0.00494 AC: 752AN: 152224Hom.: 5 Cov.: 33
GnomAD3 exomes AF: 0.00596 AC: 1440AN: 241720Hom.: 8 AF XY: 0.00650 AC XY: 855AN XY: 131494
GnomAD4 exome AF: 0.00635 AC: 9275AN: 1459820Hom.: 54 Cov.: 33 AF XY: 0.00665 AC XY: 4825AN XY: 726090
GnomAD4 genome AF: 0.00494 AC: 752AN: 152342Hom.: 5 Cov.: 33 AF XY: 0.00510 AC XY: 380AN XY: 74502
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jun 26, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at