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NM_000277.3(PAH):c.901C>A (p.Gln301Lys) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 13, 2015
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:
RCV000436688.1

Allele description [Variation Report for NM_000277.3(PAH):c.901C>A (p.Gln301Lys)]

NM_000277.3(PAH):c.901C>A (p.Gln301Lys)

Genes:
LOC126861615:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:103244689-103245888 [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.901C>A (p.Gln301Lys)
HGVS:
  • NC_000012.12:g.102851698G>T
  • NG_008690.2:g.111713C>A
  • NM_000277.3:c.901C>AMANE SELECT
  • NM_001354304.2:c.901C>A
  • NP_000268.1:p.Gln301Lys
  • NP_001341233.1:p.Gln301Lys
  • NC_000012.11:g.103245476G>T
  • NM_000277.1:c.901C>A
Protein change:
Q301K
Links:
dbSNP: rs1057520732
NCBI 1000 Genomes Browser:
rs1057520732
Molecular consequence:
  • NM_000277.3:c.901C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354304.2:c.901C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000517209GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(May 13, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000517209.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The Q301K substitution has not been published as a pathogenic variant, nor has it beenreported as a benign polymorphism to our knowledge. Q301K was not observed in approximately 6500individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. TheQ301K substitution occurs at a position that is conserved across species, in silico analysis predicts thisvariant is probably damaging to the protein structure/function, and missense variants at the same position(Q301P, Q301H) and in nearby residues (P292L/M, L293S, D296G, R297C/L/H, F299C, A300S/V,S303A/P, Q304R, I306V, G307D, L308F/V, A309D/V, S310Y/F, L311P) have been reported in theHuman Gene Mutation Database in association with phenylketonuria/ hyperphenylalaninemia (Stenson etal., 2014), supporting the functional importance of this region of the protein. Therefore, we interpretQ301K to be a pathogenic variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 26, 2023