chr10-102830705-G-A
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP6
The NM_000102.4(CYP17A1):c.1524C>T(p.Thr508=) variant causes a synonymous change. The variant allele was found at a frequency of 0.00000887 in 1,578,536 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Synonymous variant affecting the same amino acid position (i.e. T508T) has been classified as Likely benign.
Frequency
Consequence
NM_000102.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CYP17A1 | NM_000102.4 | c.1524C>T | p.Thr508= | synonymous_variant | 8/8 | ENST00000369887.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CYP17A1 | ENST00000369887.4 | c.1524C>T | p.Thr508= | synonymous_variant | 8/8 | 1 | NM_000102.4 | P3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000592 AC: 9AN: 152134Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000127 AC: 3AN: 235502Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 127374
GnomAD4 exome AF: 0.00000351 AC: 5AN: 1426402Hom.: 0 Cov.: 27 AF XY: 0.00000282 AC XY: 2AN XY: 710446
GnomAD4 genome ? AF: 0.0000592 AC: 9AN: 152134Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74316
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Dec 05, 2023 | - - |
Uncertain significance, criteria provided, single submitter | clinical testing | Eurofins Ntd Llc (ga) | Jan 23, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at