U.S. flag

An official website of the United States government

NM_000277.3(PAH):c.30C>G (p.Gly10=) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 17, 2024
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:
RCV002321585.2

Allele description [Variation Report for NM_000277.3(PAH):c.30C>G (p.Gly10=)]

NM_000277.3(PAH):c.30C>G (p.Gly10=)

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.30C>G (p.Gly10=)
HGVS:
  • NC_000012.12:g.102917101G>C
  • NG_008690.2:g.46310C>G
  • NM_000277.3:c.30C>GMANE SELECT
  • NM_001354304.2:c.30C>G
  • NP_000268.1:p.Gly10=
  • NP_001341233.1:p.Gly10=
  • NC_000012.11:g.103310879G>C
  • NM_000277.1:c.30C>G
Links:
dbSNP: rs1801145
NCBI 1000 Genomes Browser:
rs1801145
Molecular consequence:
  • NM_000277.3:c.30C>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354304.2:c.30C>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002608390Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 17, 2024) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Different clinical manifestations of hyperphenylalaninemia in three siblings with identical phenylalanine hydroxylase genes.

DiSilvestre D, Koch R, Groffen J.

Am J Hum Genet. 1991 May;48(5):1014-6. No abstract available.

PubMed [citation]
PMID:
2018035
PMCID:
PMC1683043

The phenylalanine hydroxylase c.30C>G synonymous variation (p.G10G) creates a common exonic splicing silencer.

Dobrowolski SF, Andersen HS, Doktor TK, Andresen BS.

Mol Genet Metab. 2010 Aug;100(4):316-23. doi: 10.1016/j.ymgme.2010.04.002. Epub 2010 Apr 14.

PubMed [citation]
PMID:
20457534

Details of each submission

From Ambry Genetics, SCV002608390.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The c.30C>G (p.G10G) alteration is located in exon 1 (coding exon 1) of the PAH gene. This alteration consists of a C to G substitution at nucleotide position 30. This nucleotide substitution does not change the amino acid at codon 10. However, this change occurs in the last nucleotide of Exon 1 (c.-472_60) which makes it likely to have some effect on normal mRNA splicing. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 20, 2024