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.-71A>C

CA229262

102463 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 19ae9be1-0c32-4dc3-8180-5c25108ecbbc

HGVS expressions

NM_000277.3:c.-71A>C

NM_000277.3(PAH):c.-71A>C

NC_000012.12:g.102917201T>G

CM000674.2:g.102917201T>G

NC_000012.11:g.103310979T>G

CM000674.1:g.103310979T>G

NC_000012.10:g.101835109T>G

NG_008690.1:g.5402A>C

NG_008690.2:g.46210A>C

NM_000277.1:c.-71A>C

NM_000277.2:c.-71A>C

NM_001354304.1:c.-71A>C

NM_001354304.2:c.-71A>C

ENST00000307000.7:c.-218A>C

ENST00000546708.5:n.517A>C

ENST00000546844.1:c.-71A>C

ENST00000547319.1:n.241A>C

ENST00000549111.5:n.26A>C

ENST00000551337.5:c.-71A>C

ENST00000551988.5:n.19A>C

ENST00000553106.5:c.-71A>C

ENST00000635500.1:n.29-4303A>C

Benign

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.-71A>C variant in PAH has a MAF of 0.16686 in the gnomAD African population. In summary this variant meets criteria to be classified as benign. PAH-specific ACMG/AMP criteria applied: BA1.

BA1

The allele frequency is 0.16686 (1452/8702 alleles) in the gnomAD African population, this is above the >0.015 threshold for BA1.

Approved on: 2020-03-27

Published on: 2020-03-27

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