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_001354304.2:c.1177_1178insT

CA16020958

Gene: PAH

Condition: phenylketonuria

Inheritance Mode: Autosomal recessive inheritance

Link to MONDO

UUID: bb6abd91-342d-4d4b-841b-6d550f9824e3

HGVS expressions

NM_001354304.2:c.1177_1178insT

NC_000012.12:g.102843667_102843668insA

CM000674.2:g.102843667_102843668insA

NC_000012.11:g.103237445_103237446insA

CM000674.1:g.103237445_103237446insA

NC_000012.10:g.101761575_101761576insA

NG_008690.1:g.78935_78936insT

NG_008690.2:g.119743_119744insT

ENST00000553106.6:c.1177_1178insT

ENST00000307000.7:c.1162_1163insT

ENST00000549247.6:n.936_937insT

ENST00000551114.2:n.839_840insT

ENST00000553106.5:c.1177_1178insT

ENST00000635477.1:n.281_282insT

ENST00000635528.1:n.692_693insT

NM_000277.1:c.1177_1178insT

NM_000277.2:c.1177_1178insT

NM_001354304.1:c.1177_1178insT

NM_000277.3:c.1177_1178insT

Likely Pathogenic

PM2 PVS1

Evidence Links 0

Expert Panel

Phenylketonuria VCEP

Criteria Specification Information

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Phenylketonuria VCEP

The NM_000277.3(PAH):c.1177_1178insT (p.Asn393IlefsTer2) frameshift variant has not been reported in the literature to our knowledge. This frameshift variant is in exon 11 where it creates a premature stop codon, which is predicted to result in NMD and is absent from population databases. In summary, this variant meets criteria to be classified as likely pathogenic for PAH. PAH-specific ACMG/AMP criteria applied: PVS1 and PM2.

PM2

The variant is absent from gnomAD, ExAC, 1000 Genomes, and ESP.

PVS1

The c.1177_1178insT (p.Asn393IlefsTer2) frameshift variant is in exon 11 where it creates a premature stop codon, which is predicted to result in NMD.

Approved on: 2022-07-30

Published on: 2022-07-30

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