rs752918613
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_ModerateBP7BS2
The NM_002547.3(OPHN1):c.1722G>T(p.Pro574=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000298 in 1,208,860 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 25 hemizygotes in GnomAD. 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. P574P) has been classified as Likely benign.
Frequency
Consequence
NM_002547.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OPHN1 | NM_002547.3 | c.1722G>T | p.Pro574= | synonymous_variant | 20/25 | ENST00000355520.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OPHN1 | ENST00000355520.6 | c.1722G>T | p.Pro574= | synonymous_variant | 20/25 | 1 | NM_002547.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000178 AC: 2AN: 112137Hom.: 0 Cov.: 23 AF XY: 0.0000291 AC XY: 1AN XY: 34325
GnomAD3 exomes AF: 0.0000658 AC: 12AN: 182325Hom.: 0 AF XY: 0.000150 AC XY: 10AN XY: 66873
GnomAD4 exome AF: 0.0000310 AC: 34AN: 1096723Hom.: 0 Cov.: 30 AF XY: 0.0000663 AC XY: 24AN XY: 362139
GnomAD4 genome ? AF: 0.0000178 AC: 2AN: 112137Hom.: 0 Cov.: 23 AF XY: 0.0000291 AC XY: 1AN XY: 34325
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at