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.1055delG (p.Gly352Valfs)

CA229311

102498 (ClinVar)

Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: 65776af0-77ed-41ec-9999-612a44a636b2

HGVS expressions

NM_000277.2:c.1055delG
NM_000277.2(PAH):c.1055delG (p.Gly352Valfs)
NC_000012.12:g.102844347del
CM000674.2:g.102844347del
NC_000012.11:g.103238125del
CM000674.1:g.103238125del
NC_000012.10:g.101762255del
NG_008690.1:g.78257del
NG_008690.2:g.119065del
NM_000277.1:c.1055del
NM_000277.2:c.1055del
NM_001354304.1:c.1055del
NM_000277.3:c.1055del
ENST00000307000.7:c.1040del
ENST00000549247.6:n.814del
ENST00000551114.2:n.717del
ENST00000553106.5:c.1055del
ENST00000635477.1:n.159del
ENST00000635528.1:n.570del

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: Extremely low frequency in ExAC, MAF=0.00002.; PP4: Identified in a pair of siblings with PKU. (PMID:7913581). 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
Identified in a pair of siblings with PKU.

PVS1
Frameshift variant
PM2
Extremely low frequency in ExAC, MAF=0.00002.
Approved on: 2018-08-10
Published on: 2019-08-17
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