NM_006261.4(PROP1):c.349T>A (p.Phe117Ile) AND Pituitary hormone deficiency, combined 2

Clinical significance:Likely pathogenic (Last evaluated: Jun 14, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000008564.12

Allele description [Variation Report for NM_006261.4(PROP1):c.349T>A (p.Phe117Ile)]

NM_006261.4(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_006261.4(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
  • NP_006252.3:p.Phe117Ile
  • 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]

Condition(s)

Name:
Pituitary hormone deficiency, combined 2 (CPHD2)
Synonyms:
Ateliotic dwarfism with hypogonadism; Pituitary dwarfism III; Hanhart dwarfism; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009878; MedGen: C0878683; OMIM: 262600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000028772OMIMno assertion criteria providedPathogenic
(Feb 1, 1998)
germlineliterature only

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

SCV000220413Counsylcriteria provided, single submitter
Likely pathogenic
(Jun 14, 2014)
unknownliterature only

PubMed (6)
[See all records that cite these PMIDs]

Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015)

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedunknownunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

"Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency.

Deladoëy J, Flück C, Büyükgebiz A, Kuhlmann BV, Eblé A, Hindmarsh PC, Wu W, Mullis PE.

J Clin Endocrinol Metab. 1999 May;84(5):1645-50.

PubMed [citation]
PMID:
10323394

Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects.

Lebl J, Vosáhlo J, Pfaeffle RW, Stobbe H, Cerná J, Novotná D, Zapletalová J, Kalvachová B, Hána V, Weiss V, Blum WF.

Eur J Endocrinol. 2005 Sep;153(3):389-96.

PubMed [citation]
PMID:
16131601
See all PubMed Citations (6)

Details of each submission

From OMIM, SCV000028772.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a sporadic case of combined pituitary hormone deficiency (CPHD2; 262600), Wu et al. (1998) identified compound heterozygosity for mutations in the PROP1 gene. A 2-bp deletion (301delAG; 601538.0002) was inherited from the mother; the paternal allele carried a T-to-A transversion at nucleotide 349, resulting in a phe117-to-ile amino acid substitution. Magnetic resonance imaging revealed hypocellular pituitary in this patient. This patient and the affected individuals homozygous for the 301delAG deletion failed to respond to growth hormone-releasing hormone (GHRH; 139190), thyrotropin-releasing hormone (TRH; 613879), and LH-releasing hormone (LHRH; 152760) stimulation.

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

From Counsyl, SCV000220413.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (6)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 10, 2021

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