10-87863959-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000314.8(PTEN):c.-511G>C variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000665 in 150,340 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000314.8 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PTEN | NM_000314.8 | c.-511G>C | 5_prime_UTR_variant | 1/9 | ENST00000371953.8 | ||
PTEN | NM_001304717.5 | c.10G>C | p.Gly4Arg | missense_variant | 1/10 | ||
PTEN | NM_001304718.2 | c.-1215G>C | 5_prime_UTR_variant | 1/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PTEN | ENST00000371953.8 | c.-511G>C | 5_prime_UTR_variant | 1/9 | 1 | NM_000314.8 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000665 AC: 1AN: 150340Hom.: 0 Cov.: 31
GnomAD4 exome Cov.: 0
GnomAD4 genome ? AF: 0.00000665 AC: 1AN: 150340Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 73432
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at