rs535993919
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_006261.5(PROP1):c.630A>T(p.Pro210=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000142 in 28,224 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. Synonymous variant affecting the same amino acid position (i.e. P210P) has been classified as Likely benign.
Frequency
Consequence
NM_006261.5 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 |
---|---|---|---|---|---|---|---|
PROP1 | NM_006261.5 | c.630A>T | p.Pro210= | synonymous_variant | 3/3 | ENST00000308304.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PROP1 | ENST00000308304.2 | c.630A>T | p.Pro210= | synonymous_variant | 3/3 | 1 | NM_006261.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000142 AC: 4AN: 28224Hom.: 0 Cov.: 0
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 243200Hom.: 0 Cov.: 11 AF XY: 0.00 AC XY: 0AN XY: 126600
GnomAD4 genome ? AF: 0.000142 AC: 4AN: 28224Hom.: 0 Cov.: 0 AF XY: 0.000299 AC XY: 4AN XY: 13368
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at