NM_006261.5(PROP1):c.112_124del (p.Ser38fs) AND Pituitary hormone deficiency, combined 2

Clinical significance:Pathogenic (Last evaluated: Aug 3, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000008569.6

Allele description [Variation Report for NM_006261.5(PROP1):c.112_124del (p.Ser38fs)]

NM_006261.5(PROP1):c.112_124del (p.Ser38fs)

Gene:
PROP1:PROP paired-like homeobox 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5q35.3
Genomic location:
Preferred name:
NM_006261.5(PROP1):c.112_124del (p.Ser38fs)
HGVS:
  • NC_000005.10:g.177994326_177994338del
  • NG_015889.1:g.6907_6919del
  • NM_006261.5:c.112_124delMANE SELECT
  • NP_006252.4:p.Ser38fs
  • NC_000005.9:g.177421325_177421337del
  • NC_000005.9:g.177421327_177421339del
  • NM_006261.4:c.112_124del13
  • c.419_431delACTCGAGTGCTCC/p.Asp37_Pro41del
Note:
NCBI staff reviewed the sequence information reported in PubMed 11134108 Fig. 3 to determine the location of this allele on the current reference sequence.
Protein change:
S38fs
Links:
OMIM: 601538.0007; dbSNP: rs587776682
NCBI 1000 Genomes Browser:
rs587776682
Molecular consequence:
  • NM_006261.5:c.112_124del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000028777OMIMno assertion criteria providedPathogenic
(Dec 1, 2000)
germlineliterature only

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

SCV000191977Endocrinology Clinic, Seth G.S. Medical Collegeno assertion criteria providedLikely pathogenic
(Oct 31, 2013)
inheritedcase-control

SCV000486770Counsylcriteria provided, single submitter
Pathogenic
(Aug 3, 2016)
unknownclinical testing

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

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedinheritedyes11not providednot providedyescase-control

Citations

PubMed

Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion.

Agarwal G, Bhatia V, Cook S, Thomas PQ.

J Clin Endocrinol Metab. 2000 Dec;85(12):4556-61.

PubMed [citation]
PMID:
11134108

Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD).

Turton JP, Mehta A, Raza J, Woods KS, Tiulpakov A, Cassar J, Chong K, Thomas PQ, Eunice M, Ammini AC, Bouloux PM, Starzyk J, Hindmarsh PC, Dattani MT.

Clin Endocrinol (Oxf). 2005 Jul;63(1):10-8.

PubMed [citation]
PMID:
15963055

Details of each submission

From OMIM, SCV000028777.3

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

Description

Agarwal et al. (2000) analyzed the PROP1 gene in a large consanguineous Indian pedigree with combined pituitary hormone deficiency (CPHD2; 262600) and identified homozygosity for a 13-bp deletion in affected individuals, predicted to generate a null allele. Severe cortisol deficiency was observed in 2 patients in this family, suggesting a role for PROP1 in the differentiation and/or maintenance of corticotroph cells in the mature anterior pituitary.

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

From Endocrinology Clinic, Seth G.S. Medical College, SCV000191977.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedyescase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providedbloodnot provided1not provided1not provided

From Counsyl, SCV000486770.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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