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]

Variant: NM_000277.3(PAH):c.353-22C>T

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA229520

102654 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: ce967161-a4cb-49c6-94e4-088b0f9aa074

Approved on: 2020-03-27

Published on: 2020-03-27

HGVS expressions

NM_000277.3:c.353-22C>T

NM_000277.3(PAH):c.353-22C>T

NC_000012.12:g.102877572G>A

CM000674.2:g.102877572G>A

NC_000012.11:g.103271350G>A

CM000674.1:g.103271350G>A

NC_000012.10:g.101795480G>A

NG_008690.1:g.45031C>T

NG_008690.2:g.85839C>T

NM_000277.1:c.353-22C>T

NM_000277.2:c.353-22C>T

NM_001354304.1:c.353-22C>T

NM_001354304.2:c.353-22C>T

ENST00000307000.7:c.338-22C>T

ENST00000549111.5:n.449-22C>T

ENST00000550978.6:n.337-22C>T

ENST00000551337.5:c.353-22C>T

ENST00000551988.5:n.442-22C>T

ENST00000553106.5:c.353-22C>T

Benign

BA1 BP7

Evidence Links 0

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Phenylketonuria VCEP

The c.353-22C>T variant in PAH has a MAF of 0.7066 in the gnomAD East Asian population. This intronic variant does not have a predicted impact on splicing. In summary this variant meets criteria to be classified as benign. PAH-specific ACMG/AMP criteria applied: BA1, BP7

BA1

The allele frequency is 0.7066 (6131/8626 alleles) in the gnomAD East Asian population, this is above the >0.015 threshold for BA1.

BP7

HSF and MaxEntScan predict no impact to the splice consensus sequence nor the creation of a new splice site.

Curation History

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.