NM_000306.4(POU1F1):c.787del (p.Cys263fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 6, 2023
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:: RCV003672193.2

Allele description [Variation Report for NM_000306.4(POU1F1):c.787del (p.Cys263fs)]

NM_000306.4(POU1F1):c.787del (p.Cys263fs)

Gene:

POU1F1:POU class 1 homeobox 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3p11.2

Genomic location:

Preferred name:

NM_000306.4(POU1F1):c.787del (p.Cys263fs)

HGVS:

NC_000003.12:g.87259986del
NG_008225.2:g.21605del
NM_000306.4:c.787delMANE SELECT
NM_001122757.3:c.865del
NP_000297.1:p.Cys263fs
NP_001116229.1:p.Cys289fs
NC_000003.11:g.87309133del
NC_000003.11:g.87309136del

Protein change:

C263fs

Molecular consequence:

NM_000306.4:c.787del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001122757.3:c.865del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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
SCV004386046	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Sep 6, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 22010633, 27541381, 33742319, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004386046

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Sep 6, 2023)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

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

Citations

PubMed

Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency.

Turton JP, Strom M, Langham S, Dattani MT, Le Tissier P.

Clin Endocrinol (Oxf). 2012 Mar;76(3):387-93. doi: 10.1111/j.1365-2265.2011.04236.x.

PubMed [citation]

PMID:: 22010633

Joint laxity in homozygotes for severe POU1F1 mutations.

Shamseldin HE, Maddirevula S, Nabil A, Al-Fadhil S, Al Tala S, Alkuraya FS.

Am J Med Genet A. 2016 Dec;170(12):3356-3358. doi: 10.1002/ajmg.a.37941. Epub 2016 Aug 19. No abstract available.

PubMed [citation]

PMID:: 27541381

See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004386046.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Cys263Alafs*10) in the POU1F1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 29 amino acid(s) of the POU1F1 protein. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the POU1F1 protein in which other variant(s) (p.Arg265Trp) have been determined to be pathogenic (PMID: 22010633, 27541381, 33742319). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with POU1F1-related conditions. This variant is not present in population databases (gnomAD no frequency).

#	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