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]

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

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

BP7 BA1

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

BP7

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

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.

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