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

  • See Evidence submitted by expert panel for details.

Variant: NM_000277.2(PAH):c.310_318delGCCACTGTC (p.Ala104_Val106del)

CA220580

92740 (ClinVar)

Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: 6d2dd44e-13de-406f-a230-bfe8aa3f0740

HGVS expressions

NM_000277.2:c.310_318delGCCACTGTC
NM_000277.2(PAH):c.310_318delGCCACTGTC (p.Ala104_Val106del)
NC_000012.12:g.102894769_102894777del
CM000674.2:g.102894769_102894777del
NC_000012.11:g.103288547_103288555del
CM000674.1:g.103288547_103288555del
NC_000012.10:g.101812677_101812685del
NG_008690.1:g.27826_27834del
NG_008690.2:g.68634_68642del
NM_000277.1:c.310_318del
NM_000277.2:c.310_318del
NM_001354304.1:c.310_318del
NM_000277.3:c.310_318del
ENST00000307000.7:c.295_303del
ENST00000546844.1:c.310_318del
ENST00000548928.1:n.232_240del
ENST00000549111.5:n.406_414del
ENST00000550978.6:n.294_302del
ENST00000551337.5:c.310_318del
ENST00000551988.5:n.399_407del
ENST00000553106.5:c.310_318del

Uncertain Significance

Met criteria codes 3
PM2 PM4 PP4

Evidence Links 1

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Phenylketonuria VCEP
PAH-specific ACMG/AMP criteria applied: PM2: Identified a single time in gnomAD (4.06e-06) and absent in ExAC; PM4: p.Ala104_Val106del; PP4: Single patient picked up on NBS with no confirmation studies, no clinical info, no Phe levels, etc. (PMID:27308838). In summary this variant meets criteria to be classified as uncertain significance for phenylketonuria based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (PM2, PM4, PP4).
Met criteria codes
PM2
Identified a single time in gnomAD (4.06e-06) and absent in ExAC
PM4
p.Ala104_Val106del
PP4
Single patient picked up on NBS with no confirmation studies, no clinical info, no Phe levels, etc.

Approved on: 2018-08-10
Published on: 2019-08-17
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.
¤ Powered by BCM's Genboree.