NM_006261.5(PROP1):c.349T>A (p.Phe117Ile) AND not provided

Clinical significance:Pathogenic (Last evaluated: Oct 20, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001053358.2

Allele description [Variation Report for NM_006261.5(PROP1):c.349T>A (p.Phe117Ile)]

NM_006261.5(PROP1):c.349T>A (p.Phe117Ile)

Gene:
PROP1:PROP paired-like homeobox 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q35.3
Genomic location:
Preferred name:
NM_006261.5(PROP1):c.349T>A (p.Phe117Ile)
HGVS:
  • NC_000005.10:g.177993041A>T
  • NG_015889.1:g.8202T>A
  • NM_006261.4:c.349T>A
  • NM_006261.5:c.349T>AMANE SELECT
  • NP_006252.3:p.Phe117Ile
  • NP_006252.4:p.Phe117Ile
  • NC_000005.9:g.177420042A>T
  • NC_000005.9:g.177420042A>T
  • O75360:p.Phe117Ile
Protein change:
F117I; PHE117ILE
Links:
UniProtKB: O75360#VAR_003769; OMIM: 601538.0003; dbSNP: rs121917840
NCBI 1000 Genomes Browser:
rs121917840
Molecular consequence:
  • NM_006261.4:c.349T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006261.5:c.349T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001217616Invitaecriteria provided, single submitter
Pathogenic
(Oct 20, 2020)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency.

Halász Z, Toke J, Patócs A, Bertalan R, Tömböl Z, Sallai A, Hosszú E, Muzsnai A, Kovács L, Sólyom J, Fekete G, Rácz K.

Endocrine. 2006 Dec;30(3):255-60.

PubMed [citation]
PMID:
17526936

Detection of genetic hypopituitarism in an adult population of idiopathic pituitary insufficiency patients with growth hormone deficiency.

Nyström HF, Saveanu A, Barbosa EJ, Barlier A, Enjalbert A, Glad C, Palming J, Johannsson G, Brue T.

Pituitary. 2011 Sep;14(3):208-16. doi: 10.1007/s11102-010-0278-8.

PubMed [citation]
PMID:
21132537
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV001217616.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change replaces phenylalanine with isoleucine at codon 117 of the PROP1 protein (p.Phe117Ile). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and isoleucine. This variant is present in population databases (rs121917840, ExAC 0.03%). This variant has been observed to segregate with pituitary hormone deficiency (PHD) in a family and has also been observed in several individuals affected with PHD (PMID: 17526936, 21132537, 9462743). ClinVar contains an entry for this variant (Variation ID: 8096). This variant has been reported to affect PROP1 protein function (PMID: 9462743). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Oct 25, 2021

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