The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
Criteria Specification: CSpec Registry PDF

Variant: NM_000277.2(PAH):c.500A>G (p.Asn167Ser)

CA229585

102703 (ClinVar)

Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: 33e1f5d5-20ab-45d2-8dcd-4eba431a8642

HGVS expressions

NM_000277.2:c.500A>G
NM_000277.2(PAH):c.500A>G (p.Asn167Ser)
NC_000012.12:g.102866605T>C
CM000674.2:g.102866605T>C
NC_000012.11:g.103260383T>C
CM000674.1:g.103260383T>C
NC_000012.10:g.101784513T>C
NG_008690.1:g.55998A>G
NG_008690.2:g.96806A>G
NM_000277.1:c.500A>G
NM_001354304.1:c.500A>G
NM_000277.3:c.500A>G
ENST00000307000.7:c.485A>G
ENST00000549111.5:n.596A>G
ENST00000551988.5:n.530+10857A>G
ENST00000553106.5:c.500A>G

Uncertain Significance

Met criteria codes 2
BS1 PP4
Unmet criteria codes 1
PP3

Expert Panel

Evidence Links 1

Evidence submitted by expert panel
PAH VCEP
PAH-specific ACMG/AMP criteria applied: PP4: N167S was observed in 1 case (genotype N167S/-) with benign persistent hyperphenylalaninemia (200-600 uM). (PMID:11385716); BS1: gnomAD MAF: 0.01461. In summary this variant meets criteria to be classified as uncertain significance for phenylketonuria in an autosomal recessive manner based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (PP4, BS1).
Met criteria codes
BS1
gnomAD MAF: 0.01461
PP4
N167S was observed in 1 case (genotype N167S/-) with benign persistent hyperphenylalaninemia (200-600 uM).

Unmet criteria codes
PP3
Conflicting interpretations of pathogenicity: benign and tolerated in SIFT, PP2. Deleterious in MutationTaster
Approved on: 2018-08-13
Published on: 2019-04-06
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.
¤ Powered by BCM's Genboree.