NM_000277.3(PAH):c.913-7A>G AND not provided

Clinical significance:Pathogenic (Last evaluated: Nov 12, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000089156.3

Allele description [Variation Report for NM_000277.3(PAH):c.913-7A>G]

NM_000277.3(PAH):c.913-7A>G

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.913-7A>G
HGVS:
  • NC_000012.12:g.102846958T>C
  • NG_008690.2:g.116453A>G
  • NM_000277.3:c.913-7A>GMANE SELECT
  • NM_001354304.2:c.913-7A>G
  • NC_000012.11:g.103240736T>C
  • NM_000277.1(PAH):c.913-7A>G
  • NM_000277.1:c.913-7A>G
Links:
dbSNP: rs62517165
NCBI 1000 Genomes Browser:
rs62517165
Molecular consequence:
  • NM_000277.3:c.913-7A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354304.2:c.913-7A>G - intron variant - [Sequence Ontology: SO:0001627]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000119770DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTEno assertion providednot providednot providednot provided

SCV000703341EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Nov 18, 2016)
germlineclinical testing

Citation Link,

SCV001470580Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Pathogenic
(Nov 12, 2019)
unknownclinical testing

PubMed (15)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only
not providedgermlineunknown2not providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.

Jeannesson-Thivisol E, Feillet F, Chéry C, Perrin P, Battaglia-Hsu SF, Herbeth B, Cano A, Barth M, Fouilhoux A, Mention K, Labarthe F, Arnoux JB, Maillot F, Lenaerts C, Dumesnil C, Wagner K, Terral D, Broué P, de Parscau L, Gay C, Kuster A, Bédu A, et al.

Orphanet J Rare Dis. 2015 Dec 15;10:158. doi: 10.1186/s13023-015-0375-x.

PubMed [citation]
PMID:
26666653
PMCID:
PMC5024853

Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.

Tao J, Li N, Jia H, Liu Z, Li X, Song J, Deng Y, Jin X, Zhu J.

Pediatr Res. 2015 Dec;78(6):691-9. doi: 10.1038/pr.2015.167. Epub 2015 Aug 31.

PubMed [citation]
PMID:
26322415
PMCID:
PMC4700046
See all PubMed Citations (15)

Details of each submission

From DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE, SCV000119770.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000703341.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001470580.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (15)

Description

Found in at least one patient with expected phenotype for this gene. Predicted to negatively affect a known splice site, causing an out-of-frame effect. Low nucleotide conservation. In multiple individuals, this variant has been seen with a single recessive pathogenic variant in the same gene, suggesting this variant may also be pathogenic. Assessment of experimental evidence suggests this variant results in abnormal protein function.

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

Last Updated: Aug 27, 2021

Support Center