NM_000277.3(PAH):c.441+1G>A AND not provided

Clinical significance:Pathogenic (Last evaluated: Nov 6, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000088919.3

Allele description [Variation Report for NM_000277.3(PAH):c.441+1G>A]

NM_000277.3(PAH):c.441+1G>A

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.441+1G>A
HGVS:
  • NC_000012.12:g.102877461C>T
  • NG_008690.2:g.85950G>A
  • NM_000277.3:c.441+1G>AMANE SELECT
  • NM_001354304.2:c.441+1G>A
  • NC_000012.11:g.103271239C>T
  • NM_000277.1:c.441+1G>A
Links:
dbSNP: rs62517166
NCBI 1000 Genomes Browser:
rs62517166
Molecular consequence:
  • NM_000277.3:c.441+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354304.2:c.441+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
3

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
SCV000119517DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTEno assertion providednot providednot providednot provided

SCV000230055EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Nov 6, 2014)
germlineclinical testing

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

Citation Link,

SCV001812888GeneDxno assertion criteria provided
Pathogenic
(Feb 2, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providednot providednot providednot providednot providednot provided1not providedliterature only
not providedgermlineunknown3not providednot providednot providednot providedclinical testing

Citations

PubMed

Details of each submission

From DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE, SCV000119517.1

#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, SCV000230055.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

From GeneDx, SCV001812888.1

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

Description

Canonical splice site variant predicted to result in a null allele in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 26600521, 16256386, 22112818, 23357515, 22841515, 17096675, 23430918, 8535445, 25087612)

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

Last Updated: Sep 7, 2021

Support Center