17-68869777-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001288985.2(ABCA8):c.4634A>C(p.Tyr1545Ser) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001288985.2 missense, splice_region
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 |
---|---|---|---|---|---|---|---|
ABCA8 | NM_001288985.2 | c.4634A>C | p.Tyr1545Ser | missense_variant, splice_region_variant | 38/40 | ENST00000586539.6 | |
LOC105371874 | XR_001752986.3 | n.221T>G | non_coding_transcript_exon_variant | 2/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ABCA8 | ENST00000586539.6 | c.4634A>C | p.Tyr1545Ser | missense_variant, splice_region_variant | 38/40 | 1 | NM_001288985.2 | P4 | |
ABCA8 | ENST00000430352.6 | c.4619A>C | p.Tyr1540Ser | missense_variant, splice_region_variant | 37/39 | 1 | A2 | ||
ABCA8 | ENST00000269080.6 | c.4514A>C | p.Tyr1505Ser | missense_variant, splice_region_variant | 36/38 | 1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 28
GnomAD4 genome Cov.: 32
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.