NM_000277.3(PAH):c.1065+3A>C AND Phenylketonuria

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 30, 2020
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001269053.1

Allele description [Variation Report for NM_000277.3(PAH):c.1065+3A>C]

NM_000277.3(PAH):c.1065+3A>C

Gene:

PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q23.2

Genomic location:

Preferred name:

NM_000277.3(PAH):c.1065+3A>C

HGVS:

NC_000012.12:g.102844333T>G
NG_008690.2:g.119078A>C
NM_000277.3:c.1065+3A>CMANE SELECT
NM_001354304.2:c.1065+3A>C
NC_000012.11:g.103238111T>G
NM_000277.1:c.1065+3A>C

Links:

dbSNP: rs62508689

NCBI 1000 Genomes Browser:

rs62508689

Molecular consequence:

NM_000277.3:c.1065+3A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001354304.2:c.1065+3A>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Phenylketonuria (PKU)
Synonyms:: Phenylketonurias; Oligophrenia phenylpyruvica; Folling disease
Identifiers:: MONDO: MONDO:0009861; MedGen: C0031485; Orphanet: 716; OMIM: 261600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001448247	ClinGen PAH Variant Curation Expert Panel	reviewed by expert panel (ClinGen PAH ACMG Specifications v1)	Uncertain significance (Jul 30, 2020)	germline	curation	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001448247

ClinGen PAH Variant Curation Expert Panel

reviewed by expert panel

(ClinGen PAH ACMG Specifications v1)

Uncertain significance
(Jul 30, 2020)

germline

curation

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	curation

Details of each submission

From ClinGen PAH Variant Curation Expert Panel, SCV001448247.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

Description

(PAH):c.1065+3A>C is an intronic variant that is predicted to be splice altering in multiple lines of computational evidence. This variant was identified in a patient with an unspecified PKU/HPA phenotype. The variant was not specified to be heterozygous or homozygous (PMID 10394930). This variant is absent in population databases. In summary, this variant has insufficient evidence and is classified as uncertain significance for PAH. PAH-specific ACMG/AMP criteria applied: PM2 and PP3.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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