Evidence Repository - Clinical Genome Resources

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

Link to SEPIO compliant JSON-LD document

Variant: NM_000277.2(PAH):c.707-7A>T

CA180267

102795 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: ef426544-d234-401a-81e4-5e2f6a9ded0a

HGVS expressions

NM_000277.2:c.707-7A>T

NM_000277.2(PAH):c.707-7A>T

NC_000012.12:g.102852957T>A

CM000674.2:g.102852957T>A

NC_000012.11:g.103246735T>A

CM000674.1:g.103246735T>A

NC_000012.10:g.101770865T>A

NG_008690.1:g.69646A>T

NG_008690.2:g.110454A>T

NM_000277.1:c.707-7A>T

NM_001354304.1:c.707-7A>T

NM_000277.3:c.707-7A>T

ENST00000307000.7:c.692-7A>T

ENST00000549247.6:n.459A>T

ENST00000553106.5:c.707-7A>T

Benign

BP4 BA1

Evidence Links 0

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Phenylketonuria VCEP

PAH-specific ACMG/AMP criteria applied: BA1: Highest MAF=0.10514 in 1000G. 35 homozygotes in ExAC; BP4: HSF: No significant splicing motif alteration detected. This mutation has probably no impact on splicing. CADD=1.163344. In summary this variant meets criteria to be classified as benign for phenylketonuria in an autosomal recessive manner based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (BA1, BP4).

BP4

HSF: No significant splicing motif alteration detected. This mutation has probably no impact on splicing. CADD=1.163344

BA1

Highest MAF=0.10514 in 1000G. 35 homozygotes in ExAC

Approved on: 2018-08-10

Published on: 2019-04-05

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.