Variant: NM_000277.3(PAH):c.411C>T (p.Ser137=)

CA229536

102665 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

UUID: f7f36d74-1fb3-4baf-8c0f-23bd9d781428

Approved on: 2020-03-26

Published on: 2021-05-14

HGVS expressions

NM_000277.3:c.411C>T
NM_000277.3(PAH):c.411C>T (p.Ser137=)
NC_000012.12:g.102877492G>A
CM000674.2:g.102877492G>A
NC_000012.11:g.103271270G>A
CM000674.1:g.103271270G>A
NC_000012.10:g.101795400G>A
NG_008690.1:g.45111C>T
NG_008690.2:g.85919C>T
ENST00000553106.6:c.411C>T
ENST00000307000.7:c.396C>T
ENST00000549111.5:n.507C>T
ENST00000550978.6:n.395C>T
ENST00000551988.5:n.500C>T
ENST00000553106.5:c.411C>T
NM_000277.1:c.411C>T
NM_000277.2:c.411C>T
NM_001354304.1:c.411C>T
NM_001354304.2:c.411C>T

Uncertain Significance

• Met criteria codes: PM2 BP7

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Evidence submitted by expert panel

Phenylketonuria VCEP

The c.411C>T (p.Ser137Ser) variant is absent from population databases (PM2). Human splice finder does not predict impact on a consensus splice site or creation of a new one, and there was no result in MaxEntScan (BP7). In summary, this variant meets criteria to be classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2.

Met criteria codes

• PM2: c.411C>T absent from gnomAD, ExAC, and 1000 Genomes
• BP7: HSF predicts "Creation of an exonic ESS site. Potential alteration of splicing." with %Variation at 2 sites of -0.17% and -0.84%. No impact predicted on a consensus splice site or creation of a new one. No result found in MaxEntScan.