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.299A>G (p.His100Arg)

CA6748985

306914 (ClinVar)

Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: a445bf0d-e08f-4300-b282-53c974544d50

HGVS expressions

NM_000277.2:c.299A>G
NM_000277.2(PAH):c.299A>G (p.His100Arg)
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_000277.1: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

Uncertain Significance

Met criteria codes 3
BP4 PP4 PM3
Not Met 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
BP4
In silico overwhelmingly predict benign. REVEL = 0.553
PP4
Detected in a patient with non PKU hyperphe

PM3
H100R detected with IVS10

Not Met 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.