NM_006261.5(PROP1):c.385C>T (p.Arg129Cys) AND Pituitary hormone deficiency, combined, 2

Germline classification:: Likely benign (1 submission)
Last evaluated:: Mar 29, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001827005.1

Allele description [Variation Report for NM_006261.5(PROP1):c.385C>T (p.Arg129Cys)]

NM_006261.5(PROP1):c.385C>T (p.Arg129Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q35.3

Genomic location:

Preferred name:

NM_006261.5(PROP1):c.385C>T (p.Arg129Cys)

HGVS:

NC_000005.10:g.177993005G>A
NG_015889.1:g.8238C>T
NM_006261.5:c.385C>TMANE SELECT
NP_006252.3:p.Arg129Cys
NP_006252.4:p.Arg129Cys
NC_000005.9:g.177420006G>A
NM_006261.4:c.385C>T

Protein change:

R129C

Links:

dbSNP: rs140207251

NCBI 1000 Genomes Browser:

rs140207251

Molecular consequence:

NM_006261.5:c.385C>T - missense variant - [Sequence Ontology: SO:0001583]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002081866	Natera, Inc.	no assertion criteria provided	Likely benign (Mar 29, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002081866

Natera, Inc.

no assertion criteria provided

Likely benign
(Mar 29, 2020)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002081866.1

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine