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

  • See Evidence submitted by expert panel for details.

Variant: NM_000277.1(PAH):c.814G>T (p.Gly272Ter)

CA251532

596 (ClinVar)

Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: f7c77032-c599-46f3-9086-0bb73eb5c0c1
Approved on: 2018-08-10
Published on: 2019-04-05

HGVS expressions

NM_000277.1:c.814G>T
NM_000277.1(PAH):c.814G>T (p.Gly272Ter)
NC_000012.12:g.102852843C>A
CM000674.2:g.102852843C>A
NC_000012.11:g.103246621C>A
CM000674.1:g.103246621C>A
NC_000012.10:g.101770751C>A
NG_008690.1:g.69760G>T
NG_008690.2:g.110568G>T
NM_000277.2:c.814G>T
NM_001354304.1:c.814G>T
NM_000277.3:c.814G>T
ENST00000307000.7:c.799G>T
ENST00000549247.6:n.573G>T
ENST00000553106.5:c.814G>T
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Pathogenic

Met criteria codes 3
PP4 PM2 PVS1

Evidence Links 1

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Phenylketonuria VCEP
PAH-specific ACMG/AMP criteria applied: PM2: Absent from 1000G, ESP. Extrememly low frequency in ExAC, gnomAD (MAF= 0.00006, 0.0003093); PVS1: Nonsense variant. Predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.; PP4: G272X found on one allele of a patient with classic PKU (PMID:1975559). 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).
Met criteria codes
PP4
G272X found on one allele of a patient with classic PKU

PM2
Absent from 1000G, ESP. Extrememly low frequency in ExAC, gnomAD (MAF= 0.00006, 0.0003093)
PVS1
Nonsense variant. Predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Curation History
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