NM_006261.5(PROP1):c.112_124del (p.Ser38fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Feb 24, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001385680.1

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)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001585626Invitaecriteria provided, single submitter
Pathogenic
(Feb 24, 2020)
germlineclinical testing

PubMed (3)
[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

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
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001585626.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change results in a premature translational stop signal in the PROP1 gene (p.Ser38Profs*123). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 189 amino acids of the PROP1 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in individual(s) with pituitary hormone deficiency (PMID: 11134108, 15963055). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 8101). 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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