NM_006261.4(PROP1):c.390_391del (p.Leu131fs) AND Pituitary hormone deficiency, combined 2

Clinical significance:Likely pathogenic (Last evaluated: Jul 6, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000409831.1

Allele description [Variation Report for NM_006261.4(PROP1):c.390_391del (p.Leu131fs)]

NM_006261.4(PROP1):c.390_391del (p.Leu131fs)

Gene:
PROP1:PROP paired-like homeobox 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5q35.3
Genomic location:
Preferred name:
NM_006261.4(PROP1):c.390_391del (p.Leu131fs)
HGVS:
  • NC_000005.10:g.177993000_177993001del
  • NG_015889.1:g.8243_8244del
  • NM_006261.4:c.390_391del
  • NP_006252.3:p.Leu131fs
  • NC_000005.9:g.177420001_177420002del
  • NM_006261.4:c.390_391delAC
Protein change:
L131fs
Links:
dbSNP: rs1057517027
NCBI 1000 Genomes Browser:
rs1057517027
Molecular consequence:
  • NM_006261.4:c.390_391del - 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
SCV000486622Counsylcriteria provided, single submitter
Likely pathogenic
(Jul 6, 2016)
unknownclinical testing

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

Details of each submission

From Counsyl, SCV000486622.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 25, 2021

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