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.1089delG (p.Lys363Asnfs)

CA229336

102518 (ClinVar)

Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: f73ce257-c08b-40ce-845f-012c6403252c

HGVS expressions

NM_000277.2:c.1089delG
NM_000277.2(PAH):c.1089delG (p.Lys363Asnfs)
NC_000012.12:g.102843756del
CM000674.2:g.102843756del
NC_000012.11:g.103237534del
CM000674.1:g.103237534del
NC_000012.10:g.101761664del
NG_008690.1:g.78847del
NG_008690.2:g.119655del
NM_000277.1:c.1089del
NM_000277.2:c.1089del
NM_001354304.1:c.1089del
NM_000277.3:c.1089del
ENST00000307000.7:c.1074del
ENST00000549247.6:n.848del
ENST00000551114.2:n.751del
ENST00000553106.5:c.1089del
ENST00000635477.1:n.193del
ENST00000635528.1:n.604del

Pathogenic

Met criteria codes 3
PP4 PVS1 PM2

Expert Panel

Evidence Links 1

Evidence submitted by expert panel
PAH VCEP
PAH-specific ACMG/AMP criteria applied: PVS1: Frameshift variant; PM2: Absent from ExAC, gnomAD, 1000G, ESP; PP4: Detected in a patient with Classical PKU. (PMID:8659548). 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: (PVS1, PM2, PP4).
Met criteria codes
PP4
Detected in a patient with Classical PKU.

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