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.837C>T (p.Pro279=)

CA6748836

516006 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 926ca1c3-f5e9-4f8c-af1d-8692a19f5c18

HGVS expressions

NM_000277.2:c.837C>T

NM_000277.2(PAH):c.837C>T (p.Pro279=)

NC_000012.12:g.102852820G>A

CM000674.2:g.102852820G>A

NC_000012.11:g.103246598G>A

CM000674.1:g.103246598G>A

NC_000012.10:g.101770728G>A

NG_008690.1:g.69783C>T

NG_008690.2:g.110591C>T

NM_000277.1:c.837C>T

NM_001354304.1:c.837C>T

NM_000277.3:c.837C>T

ENST00000307000.7:c.822C>T

ENST00000549247.6:n.596C>T

ENST00000553106.5:c.837C>T

Likely Benign

BP7 BS1

Evidence Links 0

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Phenylketonuria VCEP

The c.837C>T (p.Pro279=) variant in PAH has a MAF of 0.00201 in gnomAD (BS1). This is a synonymous variant, predicted tolerated and benign in SIFT, Polyphen. MutationTaster predicted polymorphism with no abrogation of splice sites (BP7). In summary, this variant meets criteria to be classified as likely benign.

BP7

Neither fruitfly nor Human Splicing Finder predict impact on splicing.

BS1

Highest MAF = 0.00201 in gnomAD

Approved on: 2020-01-26

Published on: 2020-01-31

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