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.350C>T (p.Thr117Ile)

CA267651

120273 (ClinVar)

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: 4112e5b8-c121-471a-a34f-9da03e769a2b

HGVS expressions

NM_000277.2:c.350C>T

NM_000277.2(PAH):c.350C>T (p.Thr117Ile)

NC_000012.12:g.102894737G>A

CM000674.2:g.102894737G>A

NC_000012.11:g.103288515G>A

CM000674.1:g.103288515G>A

NC_000012.10:g.101812645G>A

NG_008690.1:g.27866C>T

NG_008690.2:g.68674C>T

NM_000277.1:c.350C>T

NM_001354304.1:c.350C>T

NM_000277.3:c.350C>T

ENST00000307000.7:c.335C>T

ENST00000546844.1:c.350C>T

ENST00000548928.1:n.272C>T

ENST00000549111.5:n.446C>T

ENST00000550978.6:n.334C>T

ENST00000551337.5:c.350C>T

ENST00000551988.5:n.439C>T

ENST00000553106.5:c.350C>T

Uncertain Significance

PM2

PP3 PM5

Evidence Links 0

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Phenylketonuria VCEP

PAH-specific ACMG/AMP criteria applied: PM2: Extremely low frequency in ExAC& gnomAD (MAF 0.00018). Absent from 1000G, ESP. In summary this variant meets criteria to be classified as uncertain significance for phenylketonuria in an autosomal recessive manner based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (PM2).

PM2

Extremely low frequency in ExAC& gnomAD (MAF 0.00018). Absent from 1000G, ESP

PP3

Conflicting predictions of pathogenicity: SIFT:T,D; Polyphen2:B; MutationTaster:D. REVEL=0.482

PM5

only variant found in this codon in ClinVar

Approved on: 2018-09-28

Published on: 2019-04-06

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