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Variant: NM_000277.3(PAH):c.441+47C>T

CA229547

102673 (ClinVar)

Gene: PAH
Condition: phenylketonuria
Inheritance Mode: Autosomal recessive inheritance
UUID: 5eaf5d22-71c9-4189-b409-34f76d3ca843
Approved on: 2022-12-09
Published on: 2022-12-09

HGVS expressions

NM_000277.3:c.441+47C>T
NM_000277.3(PAH):c.441+47C>T
NC_000012.12:g.102877415G>A
CM000674.2:g.102877415G>A
NC_000012.11:g.103271193G>A
CM000674.1:g.103271193G>A
NC_000012.10:g.101795323G>A
NG_008690.1:g.45188C>T
NG_008690.2:g.85996C>T
ENST00000553106.6:c.441+47C>T
ENST00000307000.7:c.426+47C>T
ENST00000549111.5:n.537+47C>T
ENST00000550978.6:n.472C>T
ENST00000551988.5:n.530+47C>T
ENST00000553106.5:c.441+47C>T
NM_000277.1:c.441+47C>T
NM_000277.2:c.441+47C>T
NM_001354304.1:c.441+47C>T
NM_001354304.2:c.441+47C>T
More

Benign

Met criteria codes 2
BP7 BA1
Not Met criteria codes 3
PM2 PM3 PP4

Evidence Links 0

Expert Panel

Criteria Specification Information

Criteria Specifications for this VCEP
Evidence submitted by expert panel
Phenylketonuria VCEP
This c.441+47C>T variant in PAH is widely found in population databases at a frequency of 0.372401 in ExAC. This intronic variant is not predicted to have a splice-altering consequence. In summary, this variant meets criteria to be classified as a benign for PAH. PAH-specific ACMG/AMP criteria applied: BP7, BA1.
Met criteria codes
BP7
This is an intronic variant which is not located in a splice region and not predicted to have a splice-altering consequence. Several insilico prediction tools did not have a classification score for this variant (SpliceA, dbscSNV, Ada and RF score). This variant was classified as benign according to TraP (score =​​0.063).
BA1
Present in European population at frequency of 0.4394 and in all populations at frequency of 0.294329 (1000 genomes). Present in European Non-Finnish population at frequency of 0.430887 and in all populations at frequency of 0.372401(ExAC). T
Not Met criteria codes
PM2
Present in European Non-Finnish population at frequency of 0.450036 and in all populations at frequency of 0.39109 (gnomAD). Present in European Non-Finnish population at frequency of 0.430887 and in all populations at frequency of 0.372401(ExAC). The PM2 threshold set by the PAH Variant Curation Expert Panel (VCEP) is 0.0002
PM3
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
PP4
No code specific comments provided, please refer to the summary above or general recommendations provided in the guideline
Curation History
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