NM_002700.3(POU4F3):c.502del (p.Ala168fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 12, 2016
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:: RCV000413888.1

Allele description [Variation Report for NM_002700.3(POU4F3):c.502del (p.Ala168fs)]

NM_002700.3(POU4F3):c.502del (p.Ala168fs)

Genes:

POU4F3:POU class 4 homeobox 3 [Gene - OMIM - HGNC]
LOC127814297:RBM27-POU4F3 [Gene]

Variant type:

Deletion

Cytogenetic location:

5q32

Genomic location:

Preferred name:

NM_002700.3(POU4F3):c.502del (p.Ala168fs)

HGVS:

NC_000005.10:g.146339929del
NG_011885.1:g.5906del
NM_002700.3:c.502delMANE SELECT
NP_002691.1:p.Ala168fs
LRG_1355t1:c.502del
LRG_1355:g.5906del
LRG_1355p1:p.Ala168fs
NC_000005.9:g.145719492del
NM_002700.2:c.502delG
p.(Ala168Profs*36)

Protein change:

A168fs

Links:

dbSNP: rs766631025

NCBI 1000 Genomes Browser:

rs766631025

Molecular consequence:

NM_002700.3:c.502del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000491384	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Jan 12, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000491384

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Jan 12, 2016)

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, SCV000491384.1

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

Description

The c.502delG variant in the POU4F3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.502delG variant causes a frameshift starting with codon Alanine 168, changes this amino acid to a Proline residue, and creates a premature Stop codon at position 36 of the new reading frame, denoted p.ala168ProfsX36. This variant is predicted to cause loss of normal protein function through protein truncation. The c.502delG variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.502delG variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.

#	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: Aug 18, 2024

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