NM_006261.5(PROP1):c.191dup (p.Arg65fs) AND Pituitary hormone deficiency, combined, 2

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 7, 2017
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000666479.1

Allele description [Variation Report for NM_006261.5(PROP1):c.191dup (p.Arg65fs)]

NM_006261.5(PROP1):c.191dup (p.Arg65fs)

Gene:

PROP1:PROP paired-like homeobox 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

5q35.3

Genomic location:

Preferred name:

NM_006261.5(PROP1):c.191dup (p.Arg65fs)

HGVS:

NC_000005.10:g.177994260dup
NG_015889.1:g.6986dup
NM_006261.5:c.191dupMANE SELECT
NP_006252.4:p.Arg65fs
NC_000005.9:g.177421261dup
NM_006261.4:c.191dupG

Protein change:

R65fs

Links:

dbSNP: rs1554182507

NCBI 1000 Genomes Browser:

rs1554182507

Molecular consequence:

NM_006261.5:c.191dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Pituitary hormone deficiency, combined, 2
Synonyms:: Ateliotic dwarfism with hypogonadism; Pituitary dwarfism III; Hanhart dwarfism
Identifiers:: MONDO: MONDO:0009878; MedGen: C0878683; OMIM: 262600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000790781	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Apr 7, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000790781

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(Apr 7, 2017)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Counsyl, SCV000790781.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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