Evidence Repository - Clinical Genome Resources

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

Link to SEPIO compliant JSON-LD document

Variant: NM_000277.2(PAH):c.735G>A (p.Val245=)

CA145982

92748 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 9cca2153-6d64-4ab3-923e-39673d123cd3

Approved on: 2018-04-24

Published on: 2019-04-05

HGVS expressions

NM_000277.2:c.735G>A

NM_000277.2(PAH):c.735G>A (p.Val245=)

NC_000012.12:g.102852922C>T

CM000674.2:g.102852922C>T

NC_000012.11:g.103246700C>T

CM000674.1:g.103246700C>T

NC_000012.10:g.101770830C>T

NG_008690.1:g.69681G>A

NG_008690.2:g.110489G>A

NM_000277.1:c.735G>A

NM_001354304.1:c.735G>A

NM_000277.3:c.735G>A

ENST00000307000.7:c.720G>A

ENST00000549247.6:n.494G>A

ENST00000553106.5:c.735G>A

Benign

BS2 BP4 BA1

Evidence Links 0

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Phenylketonuria VCEP

The c.735G>A (p.Val245=) variant in PAH has a MAF of 0.29058 in ExAC (BA1; http://exac.broadinstitute.org) with 6,524 homozygotes (BS2). This is a synonymous variant, predicted tolerated and benign in SIFT, Polyphen. MutationTaster predicted polymorphism with no abrogation of splice sites (BP4). In summary, this variant meets criteria to be classified as benign.

BS2

Reported in the homozygous state in large population databases

BP4

Synonymous variant, predicted tolerated and benign in SIFT, Polyphen. MutationTaster predicted polymorphism with no abrogation of splice sites

BA1

AF is 0.29058 in ExAC with 6,524 homozygotes. highest MAF is 0.76290 in EAS from 1000G

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