rs1347223331
Variant summary
Our verdict is Pathogenic. Variant got 11 ACMG points: 11P and 0B. PVS1PM2PP5
The NM_001079537.2(TRAPPC6B):c.150-2A>G variant causes a splice acceptor, intron change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000733 in 1,364,744 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 3/3 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Pathogenic (no stars).
Frequency
Consequence
NM_001079537.2 splice_acceptor, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TRAPPC6B | NM_001079537.2 | c.150-2A>G | splice_acceptor_variant, intron_variant | Intron 2 of 5 | ENST00000330149.10 | NP_001073005.1 | ||
TRAPPC6B | NM_177452.4 | c.150-2A>G | splice_acceptor_variant, intron_variant | Intron 2 of 4 | NP_803235.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000455 AC: 1AN: 219730Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 119660
GnomAD4 exome AF: 7.33e-7 AC: 1AN: 1364744Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 682728
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy Pathogenic:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at