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NM_000277.3(PAH):c.212G>A (p.Arg71His) AND Familial multiple polyposis syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 8, 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:
RCV004525871.1

Allele description

NM_000277.3(PAH):c.212G>A (p.Arg71His)

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.212G>A (p.Arg71His)
Other names:
p.R71H:CGT>CAT
HGVS:
  • NC_000012.12:g.102894875C>T
  • NG_008690.2:g.68536G>A
  • NM_000277.1(PAH):c.212G>A
  • NM_000277.3:c.212G>AMANE SELECT
  • NM_001354304.2:c.212G>A
  • NP_000268.1:p.Arg71His
  • NP_001341233.1:p.Arg71His
  • NC_000012.11:g.103288653C>T
  • NM_000277.1(PAH):c.212G>A
  • NM_000277.1:c.212G>A
  • p.Arg71His
Protein change:
R71H
Links:
dbSNP: rs62508695
NCBI 1000 Genomes Browser:
rs62508695
Molecular consequence:
  • NM_000277.3:c.212G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354304.2:c.212G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial multiple polyposis syndrome (FAP)
Synonyms:
Familial adenomatous polyposis of the colon; Familial polyposis of the colon; Familial intestinal polyposis; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0021055; MedGen: C0032580; OMIM: PS175100

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005039983Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Likely pathogenic
(Mar 8, 2024) 		germlineclinical testing

PubMed (7)
[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

Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.

Li N, Jia H, Liu Z, Tao J, Chen S, Li X, Deng Y, Jin X, Song J, Zhang L, Liang Y, Wang W, Zhu J.

Sci Rep. 2015 Oct 27;5:15769. doi: 10.1038/srep15769.

PubMed [citation]
PMID:
26503515
PMCID:
PMC4621502

Mutations in exon 3 of the PAH gene causing mild hyperphenylalaninemia.

Zekanowski C, Nowacka M, Gizewska M, Filipowicz J, Cabalska B, Bal J.

Genet Test. 1999;3(3):297-9.

PubMed [citation]
PMID:
10495930
See all PubMed Citations (7)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005039983.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

Variant summary: APC c.212G>A (p.Arg71His) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 250788 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.212G>A has been reported in the literature in individuals affected with Familial Adenomatous Polyposis. These report(s) do not provide unequivocal conclusions about association of the variant with Familial Adenomatous Polyposis. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Jun 29, 2024