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_000277.2(PAH):c.60+62C>T

CA13630270

585207 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 24a068dd-dec7-40b4-9e47-c33c98a9f925

HGVS expressions

NM_000277.2:c.60+62C>T

NM_000277.2(PAH):c.60+62C>T

NC_000012.12:g.102917009G>A

CM000674.2:g.102917009G>A

NC_000012.11:g.103310787G>A

CM000674.1:g.103310787G>A

NC_000012.10:g.101834917G>A

NG_008690.1:g.5594C>T

NG_008690.2:g.46402C>T

NM_000277.1:c.60+62C>T

NM_001354304.1:c.60+62C>T

NM_000277.3:c.60+62C>T

ENST00000307000.7:c.-88+62C>T

ENST00000546844.1:c.60+62C>T

ENST00000547319.1:n.371+62C>T

ENST00000549111.5:n.156+62C>T

ENST00000550978.6:n.44+62C>T

ENST00000551337.5:c.60+62C>T

ENST00000551988.5:n.149+62C>T

ENST00000553106.5:c.60+62C>T

ENST00000635500.1:n.29-4111C>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.60+62C>T intronic variant in PAH has a MAF of 0.3441 in gnomAD with 2,014 homozygotes.In summary, this variant meets criteria to be classified as benign for PAH. PAH-specific ACMG/AMP criteria applied: BA1, BS2, BP7.

BA1

This is a common polymorphism with an overall allele frequency in gnomAD of 0.3441 and a MAF as high as 0.4957 (4,299/8,672 alleles) in the African population.

BP7

HSF and MaxEntScan do not identify an impact to the splice consensus sequence nor the creation of a new splice site.

Approved on: 2019-11-08

Published on: 2019-11-08

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