Variant: NM_000277.2(PAH):c.707-7A>T

CA180267

102795 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

UUID: ef426544-d234-401a-81e4-5e2f6a9ded0a

Approved on: 2018-08-10

Published on: 2019-04-05

HGVS expressions

NM_000277.2:c.707-7A>T
NM_000277.2(PAH):c.707-7A>T
NC_000012.12:g.102852957T>A
CM000674.2:g.102852957T>A
NC_000012.11:g.103246735T>A
CM000674.1:g.103246735T>A
NC_000012.10:g.101770865T>A
NG_008690.1:g.69646A>T
NG_008690.2:g.110454A>T
NM_000277.1:c.707-7A>T
NM_001354304.1:c.707-7A>T
NM_000277.3:c.707-7A>T
ENST00000307000.7:c.692-7A>T
ENST00000549247.6:n.459A>T
ENST00000553106.5:c.707-7A>T

Benign

• Met criteria codes: BP4 BA1

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Evidence submitted by expert panel

Phenylketonuria VCEP

PAH-specific ACMG/AMP criteria applied: BA1: Highest MAF=0.10514 in 1000G. 35 homozygotes in ExAC; BP4: HSF: No significant splicing motif alteration detected. This mutation has probably no impact on splicing. CADD=1.163344. In summary this variant meets criteria to be classified as benign for phenylketonuria in an autosomal recessive manner based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (BA1, BP4).

Met criteria codes

• BP4: HSF: No significant splicing motif alteration detected. This mutation has probably no impact on splicing. CADD=1.163344
• BA1: Highest MAF=0.10514 in 1000G. 35 homozygotes in ExAC