NM_000277.3:c.1316-35C>T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP7BA1
This summary comes from the ClinGen Evidence Repository: The c.1316-35C>T variant in PAH has a MAF of 0.02321 in the gnomAD European (Non-Finnish) population. This intronic variant does not have a predicted impact on splicing. In summary this variant meets criteria to be classified as benign. PAH-specific ACMG/AMP criteria applied: BA1, BP7 LINK:https://erepo.genome.network/evrepo/ui/classification/CA229433/MONDO:0009861/006
Frequency
Consequence
NM_000277.3 intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PAH | NM_000277.3 | c.1316-35C>T | intron_variant | Intron 12 of 12 | ENST00000553106.6 | NP_000268.1 | ||
PAH | NM_001354304.2 | c.1316-35C>T | intron_variant | Intron 13 of 13 | NP_001341233.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0167 AC: 2543AN: 152168Hom.: 34 Cov.: 33
GnomAD3 exomes AF: 0.0161 AC: 4031AN: 250524Hom.: 53 AF XY: 0.0168 AC XY: 2283AN XY: 135492
GnomAD4 exome AF: 0.0223 AC: 32486AN: 1455256Hom.: 444 Cov.: 28 AF XY: 0.0222 AC XY: 16076AN XY: 724472
GnomAD4 genome AF: 0.0167 AC: 2542AN: 152286Hom.: 34 Cov.: 33 AF XY: 0.0156 AC XY: 1163AN XY: 74454
ClinVar
Submissions by phenotype
not provided Benign:3Other:1
- -
- -
- -
PAH: BS1, BS2 -
Phenylketonuria Benign:1
The c.1316-35C>T variant in PAH has a MAF of 0.02321 in the gnomAD European (Non-Finnish) population. This intronic variant does not have a predicted impact on splicing. In summary this variant meets criteria to be classified as benign. PAH-specific ACMG/AMP criteria applied: BA1, BP7 -
not specified Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at