NM_000277.3(PAH):c.552_554del (p.Lys185del) AND Phenylketonuria

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 10, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV003495702.2

Allele description [Variation Report for NM_000277.3(PAH):c.552_554del (p.Lys185del)]

NM_000277.3(PAH):c.552_554del (p.Lys185del)

Gene:

PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12q23.2

Genomic location:

Preferred name:

NM_000277.3(PAH):c.552_554del (p.Lys185del)

HGVS:

NC_000012.12:g.102855290_102855292del
NG_008690.2:g.108121_108123del
NM_000277.3:c.552_554delMANE SELECT
NM_001354304.2:c.552_554del
NP_000268.1:p.Lys185del
NP_001341233.1:p.Lys185del
NC_000012.11:g.103249066_103249068del
NC_000012.11:g.103249068_103249070del

Protein change:

K185del

Molecular consequence:

NM_000277.3:c.552_554del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001354304.2:c.552_554del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

CCAX5469.g1 NICHD_XGC_tropEye1 Xenopus tropicalis cDNA clone IMAGE:8848033 3', m...
CCAX5469.g1 NICHD_XGC_tropEye1 Xenopus tropicalis cDNA clone IMAGE:8848033 3', mRNA sequence
gi|148859685|gnl|dbEST|46888706|gb| 196.1|

Nucleotide
AGENCOURT_13319315 NICHD_XGC_Tad2 Xenopus laevis cDNA clone IMAGE:6875505 3', mR...
AGENCOURT_13319315 NICHD_XGC_Tad2 Xenopus laevis cDNA clone IMAGE:6875505 3', mRNA sequence
gi|29482542|gnl|dbEST|17308094|gb|C 12.1|

Nucleotide
daa32e07.y1 NICHD_XGC_Lu1 Xenopus laevis cDNA clone IMAGE:4057837 5', mRNA seque...
daa32e07.y1 NICHD_XGC_Lu1 Xenopus laevis cDNA clone IMAGE:4057837 5', mRNA sequence
gi|12746964|gnl|dbEST|7837686|gb|BG 7.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004316232	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 10, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004316232

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 10, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004316232.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with PAH-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.552_554del, results in the deletion of 1 amino acid(s) of the PAH protein (p.Lys185del), but otherwise preserves the integrity of the reading frame.

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine