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NM_000277.3(PAH):c.609C>T (p.Cys203=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 29, 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:
RCV002513934.2

Allele description [Variation Report for NM_000277.3(PAH):c.609C>T (p.Cys203=)]

NM_000277.3(PAH):c.609C>T (p.Cys203=)

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.609C>T (p.Cys203=)
HGVS:
  • NC_000012.12:g.102855233G>A
  • NG_008690.2:g.108178C>T
  • NM_000277.3:c.609C>TMANE SELECT
  • NM_001354304.2:c.609C>T
  • NP_000268.1:p.Cys203=
  • NP_001341233.1:p.Cys203=
  • NC_000012.11:g.103249011G>A
  • NM_000277.1:c.609C>T
Links:
dbSNP: rs1801147
NCBI 1000 Genomes Browser:
rs1801147
Molecular consequence:
  • NM_000277.3:c.609C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354304.2:c.609C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003683645Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Aug 29, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003683645.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Oct 20, 2024