×

Please note this is a beta version of the ClinGen Evidence Repository. This resource is intended to provide access to variant level evidence used and applied by ClinGen Variant Curation Expert Panels in the classification of variants. In this beta version, the evidence is limited to curation notes and referenced literature (PMIDs).

For general information about ClinGen Expert Panels and Variant Curation please visit: Clinical Domain Working Groups. For specific inquiries regarding a variant classification or evidence curation (e.g. population database queried, segregation counts or other evidence used) or to submit general comments about the evidence repo, please email us.

The resource is undergoing updates and tesing. Should you encounter any issues regarding the data displayed, lack of functionality or other problems, please let us know so we can rectify these accordingly. Your help in this regard is greatly appreciated.

NM_000277.2(PAH):c.299A>G (p.His100Arg)

CA6748985

306914 (ClinVar)

Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance

HGVS expressions

NM_000277.2:c.299A>G
NM_000277.1:c.299A>G
NM_001354304.1:c.299A>G
NM_000277.3:c.299A>G
ENST00000307000.7:c.284A>G
ENST00000546844.1:c.299A>G
ENST00000548928.1:n.221A>G
ENST00000549111.5:n.395A>G
ENST00000550978.6:n.283A>G
ENST00000551337.5:c.299A>G
ENST00000551988.5:n.388A>G
ENST00000553106.5:c.299A>G
NC_000012.12:g.102894788T>C
CM000674.2:g.102894788T>C
NC_000012.11:g.103288566T>C
CM000674.1:g.103288566T>C
NC_000012.10:g.101812696T>C
NG_008690.1:g.27815A>G
NG_008690.2:g.68623A>G
NM_000277.2(PAH):c.299A>G (p.His100Arg)

Uncertain Significance

Met criteria codes 3
PP4 PM3 BP4
Unmet criteria codes 1
PM2

Expert Panel

Evidence Links 1

Evidence submitted by expert panel
PAH VCEP
PAH-specific ACMG/AMP criteria applied: BP4: In silico overwhelmingly predict benign. REVEL = 0.553; PP4: Detected in a patient with non PKU hyperphe (PMID:11244681); PM3: H100R detected with IVS10 (PMID:11244681). 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: (BP4, PP4, PM3).
Met criteria codes
PP4
Detected in a patient with non PKU hyperphe

PM3
H100R detected with IVS10

BP4
In silico overwhelmingly predict benign. REVEL = 0.553
Unmet criteria codes
PM2
> than the PAH specific PM2 specification of AF=0.0002 (0.02%).
Approved on: 2018-08-10
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.