9-77316303-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_033305.3(VPS13A):c.4760A>T(p.Tyr1587Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,216 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/23 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Y1587C) has been classified as Likely benign.
Frequency
Consequence
NM_033305.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
VPS13A | NM_033305.3 | c.4760A>T | p.Tyr1587Phe | missense_variant | Exon 39 of 72 | ENST00000360280.8 | NP_150648.2 | |
VPS13A | NM_001018037.2 | c.4643A>T | p.Tyr1548Phe | missense_variant | Exon 38 of 71 | NP_001018047.1 | ||
VPS13A | NM_015186.4 | c.4760A>T | p.Tyr1587Phe | missense_variant | Exon 39 of 69 | NP_056001.1 | ||
VPS13A | NM_001018038.3 | c.4760A>T | p.Tyr1587Phe | missense_variant | Exon 39 of 69 | NP_001018048.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461216Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 726890
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at