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NM_006261.4(PROP1):c.112_124del (p.Ser38fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 24, 2020
Accession:
VCV000008101.3
Variation ID:
8101
Description:
13bp deletion
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NM_006261.4(PROP1):c.112_124del (p.Ser38fs)

Allele ID
23140
Variant type
Deletion
Variant length
13 bp
Cytogenetic location
5q35.3
Genomic location
5: 177994324-177994336 (GRCh38) GRCh38 UCSC
5: 177421325-177421337 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.177994326_177994338del
NC_000005.9:g.177421327_177421339del
NM_006261.4:c.112_124del NP_006252.3:p.Ser38fs frameshift
... more HGVS
Protein change
S38fs
Other names
-
Canonical SPDI
NC_000005.10:177994323:GTGGAGCACTCGAGT:GT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA340729
OMIM: 601538.0007
dbSNP: rs587776682
VarSome
Comment on variant
NCBI staff reviewed the sequence information reported in PubMed 11134108 Fig. 3 to determine the location of this allele on the current reference sequence.
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 criteria provided, single submitter Aug 3, 2016 RCV000008569.6
Pathogenic 1 criteria provided, single submitter Feb 24, 2020 RCV001385680.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PROP1 - - GRCh38
GRCh38
GRCh38
GRCh37
142 194

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Feb 24, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001585626.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
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 … (more)
Pathogenic
(Aug 03, 2016)
criteria provided, single submitter
Method: clinical testing
Pituitary hormone deficiency, combined 2
Allele origin: unknown
Counsyl
Accession: SCV000486770.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (1)
Pathogenic
(Dec 01, 2000)
no assertion criteria provided
Method: literature only
PITUITARY HORMONE DEFICIENCY, COMBINED, 2
Allele origin: germline
OMIM
Accession: SCV000028777.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Oct 31, 2013)
no assertion criteria provided
Method: case-control
Pituitary hormone deficiency, combined 2
(Autosomal recessive inheritance)
Allele origin: inherited
Endocrinology Clinic, Seth G.S. Medical College
Accession: SCV000191977.2
Submitted: (Jun 24, 2015)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD). Turton JP Clinical endocrinology 2005 PMID: 15963055
Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion. Agarwal G The Journal of clinical endocrinology and metabolism 2000 PMID: 11134108

Text-mined citations for rs587776682...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated May 13, 2021