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]

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Variant: NM_000277.2(PAH):c.706+17G>T

CA229702

102792 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 42a15d7a-4d52-4cde-a8ef-9abc9e2dcad4

HGVS expressions

NM_000277.2:c.706+17G>T

NM_000277.2(PAH):c.706+17G>T

NC_000012.12:g.102855119C>A

CM000674.2:g.102855119C>A

NC_000012.11:g.103248897C>A

CM000674.1:g.103248897C>A

NC_000012.10:g.101773027C>A

NG_008690.1:g.67484G>T

NG_008690.2:g.108292G>T

NM_000277.1:c.706+17G>T

NM_001354304.1:c.706+17G>T

NM_000277.3:c.706+17G>T

ENST00000307000.7:c.691+17G>T

ENST00000549111.5:n.819G>T

ENST00000553106.5:c.706+17G>T

Likely Benign

BS1 BP4

PP4

Evidence Links 1

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Phenylketonuria VCEP

The c.706+17G>T variant in PAH has been reported in the mother of a patient with PKU (not found in the patient). PMID: 11139255. The MAF for this variant is 0.00269, greater than expected. Multiple splicing predictors suggest no impact (HSF: No significant splicing motif alteration detected. This mutation has probably no impact on splicing. MaxEnt: +15.3 % variation). In summary, this variant meets criteria to be classified as likely benign: BS1, BP4.

BS1

AF= 0.00269, greater than expected

BP4

HSF: No significant splicing motif alteration detected. This mutation has probably no impact on splicing. MaxEnt: +15.3 % variation.

PP4

IVS6+17G/T (c.706+17G>T) was observed only in the patient’s mother of family 1. PMID: 11139255

A total of 115 PKU families (292 individuals, 126 of them being patients and 166 relatives) mainly from the southeast region of Brazil were investigated. The patients were identified by a neonatal screening program and were considered to have PKU when the phenylalanine levels were above 4 mg/dl. IVS6+17G/T (c.706+17G>T) was observed only in the patient’s mother of family 1. PubMed:11139255

Approved on: 2018-12-10

Published on: 2019-04-06

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