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_000277.3(PAH):c.1065+7C>A

CA229319

102506 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: f8c03fde-6d9e-4d11-b9a5-6e631ce1d8fd

HGVS expressions

NM_000277.3:c.1065+7C>A

NM_000277.3(PAH):c.1065+7C>A

NM_000277.1:c.1065+7C>A

NM_000277.2:c.1065+7C>A

NM_001354304.1:c.1065+7C>A

NM_001354304.2:c.1065+7C>A

ENST00000307000.7:c.1050+7C>A

ENST00000549247.6:n.824+7C>A

ENST00000551114.2:n.727+7C>A

ENST00000553106.5:c.1065+7C>A

ENST00000635477.1:n.169+7C>A

ENST00000635528.1:n.580+7C>A

NC_000012.12:g.102844329G>T

CM000674.2:g.102844329G>T

NC_000012.11:g.103238107G>T

CM000674.1:g.103238107G>T

NC_000012.10:g.101762237G>T

NG_008690.1:g.78274C>A

NG_008690.2:g.119082C>A

Uncertain Significance

PP4 PM2 BP4

Evidence Links 0

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Phenylketonuria VCEP

(PAH):c.1065+7C>A is an intronic variant that is predicted to be have no effect on splicing by multiple lines of computational evidence. This variant was identified in a patient with mild HPA. Patient genotype was not specified homozygous or compound heterozygous (PMID 10947211). This variant is absent in population databases. In summary, this variant has insufficient evidence and is classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2, BP4, and PP4.

PP4

This variant was documented in a patient with mild HPA. It was not specified whether patient genotypes were homozygous or compound heterozygous for the variant (PMID 10947211).

PM2

Absent from GnomAD.

BP4

Computational prediction tools unanimously support a benign effect on the gene, splicing AI (0), dbsSNV (0), RF (0.01), TraP score (0.0).

Approved on: 2020-07-25

Published on: 2020-07-25

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.