Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000306.4(POU1F1):c.666-5G>A

Help
Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Sep 3, 2021)
Last evaluated:
Jul 10, 2018
Accession:
VCV000198069.4
Variation ID:
198069
Description:
single nucleotide variant
Help

NM_000306.4(POU1F1):c.666-5G>A

Allele ID
195230
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p11.2
Genomic location
3: 87260109 (GRCh38) GRCh38 UCSC
3: 87309259 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.87309259C>T
NC_000003.12:g.87260109C>T
NG_008225.2:g.21479G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:87260108:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.01957 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00457
1000 Genomes Project 0.01957
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00092
Trans-Omics for Precision Medicine (TOPMed) 0.00819
Links
ClinGen: CA203213
dbSNP: rs76296626
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Apr 17, 2015 RCV000179288.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000281196.1
Benign 1 criteria provided, single submitter Jun 14, 2016 RCV000363552.1
Benign 3 criteria provided, single submitter Jul 10, 2018 RCV000712842.3
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV001143926.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CHMP2B - - GRCh38
GRCh37
83 107
POU1F1 - - GRCh38
GRCh37
55 78

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Apr 17, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000231513.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Frontotemporal Dementia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000484072.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Combined Pituitary Hormone Deficiency, Recessive
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000446375.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Jul 10, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000843378.1
Submitted: (Aug 31, 2018)
Evidence details
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Pituitary hormone deficiency, combined, 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001304490.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
Study: VKGL Data-share Consensus
Accession: SCV001800284.1
Submitted: (Aug 19, 2021)
Evidence details
Benign
(Dec 16, 2019)
no assertion criteria provided
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001831395.1
Submitted: (Sep 03, 2021)
Evidence details

Functional evidence

Help
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

Help
Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=POU1F1 - - - -

Text-mined citations for rs76296626...

Help
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 Sep 07, 2021