The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
Criteria Specification: CSpec Registry PDF

Variant: NM_000277.2(PAH):c.1024delG (p.Ala342Hisfs)

CA229279

102475 (ClinVar)

Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: 4cc2d322-d860-4209-b3df-63e58bac3b07

HGVS expressions

NM_000277.2:c.1024delG
NM_000277.2(PAH):c.1024delG (p.Ala342Hisfs)
NC_000012.12:g.102844378del
CM000674.2:g.102844378del
NC_000012.11:g.103238156del
CM000674.1:g.103238156del
NC_000012.10:g.101762286del
NG_008690.1:g.78226del
NG_008690.2:g.119034del
NM_000277.1:c.1024del
NM_000277.2:c.1024del
NM_001354304.1:c.1024del
NM_000277.3:c.1024del
ENST00000307000.7:c.1009del
ENST00000549247.6:n.783del
ENST00000551114.2:n.686del
ENST00000553106.5:c.1024del
ENST00000635477.1:n.128del
ENST00000635528.1:n.539del

Pathogenic

Met criteria codes 3
PP4_Moderate PVS1 PM2

Expert Panel

Evidence Links 1

Evidence submitted by expert panel
PAH VCEP
PAH-specific ACMG/AMP criteria applied: PM2: Absent from ExAC, gnomAD, 1000G, ESP; PVS1: Frameshift variant; PP4_Moderate: Reported in patients with PAH deficiency. Bh4 defects excluded. (PMID:9634518). In summary this variant meets criteria to be classified as pathogenic for phenylketonuria in an autosomal recessive manner based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (PM2, PVS1, PP4_Moderate).
Met criteria codes
PP4_Moderate
Reported in patients with PAH deficiency. Bh4 defects excluded.

PVS1
Frameshift variant
PM2
Absent from ExAC, gnomAD, 1000G, ESP
Approved on: 2018-08-10
Published on: 2019-08-17
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