NM_000306.4(POU1F1):c.515G>A (p.Arg172Gln) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 28, 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:: RCV000521929.3

Allele description [Variation Report for NM_000306.4(POU1F1):c.515G>A (p.Arg172Gln)]

NM_000306.4(POU1F1):c.515G>A (p.Arg172Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p11.2

Genomic location:

Preferred name:

NM_000306.4(POU1F1):c.515G>A (p.Arg172Gln)

HGVS:

NC_000003.12:g.87262160C>T
NG_008225.2:g.19428G>A
NM_000306.4:c.515G>AMANE SELECT
NM_001122757.3:c.593G>A
NP_000297.1:p.Arg172Gln
NP_001116229.1:p.Arg198Gln
NC_000003.11:g.87311310C>T
NM_000306.2:c.515G>A
NM_000306.3:c.515G>A

Protein change:

R172Q; ARG172GLN

Links:

OMIM: 173110.0013; dbSNP: rs104893765

NCBI 1000 Genomes Browser:

rs104893765

Molecular consequence:

NM_000306.4:c.515G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001122757.3:c.593G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000617249	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Sep 28, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000617249

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Sep 28, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000617249.2

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

Description

The R172Q variant in the POU1F1 gene has been reported previously in the compound heterozygous and homozygous states in association with combined pituitary hormone deficiency (Turton et al., 2005; Shamseldin et al., 2016). The R172Q variant is observed in 1/66724 (0.002%) alleles from individuals of non-Finnish European background in the ExAC dataset (Lek et al., 2016). The R172Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R172Q as a likely pathogenic variant.

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

Last Updated: Sep 3, 2023

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