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Please note this is a beta version of the ClinGen Evidence Repository. This resource is intended to provide access to variant level evidence used and applied by ClinGen Variant Curation Expert Panels in the classification of variants. In this beta version, the evidence is limited to curation notes and referenced literature (PMIDs).

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NM_000277.2(PAH):c.1278T>C (p.Asn426=)

CA145978

92732 (ClinVar)

Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance

HGVS expressions

NM_000277.2:c.1278T>C
NM_000277.1:c.1278T>C (p.Asn426=)
XM_011538422.1:c.1221T>C (p.Asn407=)
NM_001354304.1:c.1278T>C (p.Asn426=)
ENST00000307000.7:c.1263T>C (p.Asn421=)
ENST00000551114.2:n.940T>C
ENST00000553106.5:c.1278T>C (p.Asn426=)
ENST00000635477.1:n.382T>C
ENST00000635528.1:n.793T>C
NC_000012.12:g.102840437A>G
CM000674.2:g.102840437A>G
NC_000012.11:g.103234215A>G
CM000674.1:g.103234215A>G
NC_000012.10:g.101758345A>G
NG_008690.1:g.82166T>C
NG_008690.2:g.122974T>C

Benign

Met criteria codes 2
BP4 BA1

Expert Panel

Evidence Links 0

Evidence submitted by expert panel
PAH EP
PAH-specific ACMG/AMP criteria applied: BA1: MAF=0.16641; BP4: no impact on gene in SIFT, Polyphen2, MutationTaster. In summary this variant meets criteria to be classified as benign for phenylketonuria in an autosomal recessive manner based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (BA1, BP4).
Met criteria codes
BP4
no impact on gene in SIFT, Polyphen2, MutationTaster.
BA1
MAF=0.16641
Approved on: 2018-08-10
Published on: 2018-10-02
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