rs1042503
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_000277.3(PAH):c.735G>T(p.Val245Val) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. V245V) has been classified as Benign.
Frequency
Consequence
NM_000277.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PAH | NM_000277.3 | c.735G>T | p.Val245Val | synonymous_variant | 7/13 | ENST00000553106.6 | NP_000268.1 | |
PAH | NM_001354304.2 | c.735G>T | p.Val245Val | synonymous_variant | 8/14 | NP_001341233.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PAH | ENST00000553106.6 | c.735G>T | p.Val245Val | synonymous_variant | 7/13 | 1 | NM_000277.3 | ENSP00000448059.1 | ||
PAH | ENST00000307000.7 | c.720G>T | p.Val240Val | synonymous_variant | 8/14 | 5 | ENSP00000303500.2 | |||
PAH | ENST00000549247.6 | n.494G>T | non_coding_transcript_exon_variant | 1/6 | 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 35
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at