NM_003924.4(PHOX2B):c.836_843del (p.Pro279fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 25, 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:: RCV002434748.2

Allele description [Variation Report for NM_003924.4(PHOX2B):c.836_843del (p.Pro279fs)]

NM_003924.4(PHOX2B):c.836_843del (p.Pro279fs)

Gene:

PHOX2B:paired like homeobox 2B [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

4p13

Genomic location:

Preferred name:

NM_003924.4(PHOX2B):c.836_843del (p.Pro279fs)

HGVS:

NC_000004.12:g.41745911_41745918del
NG_008243.1:g.8055_8062del
NG_053075.1:g.37_44del
NM_003924.4:c.836_843delMANE SELECT
NP_003915.2:p.Pro279Leufs
NP_003915.2:p.Pro279fs
LRG_513t1:c.834_841del
LRG_513:g.8055_8062del
LRG_513p1:p.Pro279Leufs
NC_000004.11:g.41747928_41747935del
NM_003924.3:c.834_841delCCCCATCA
NM_003924.3:c.836_843delCCATCACC

Protein change:

P279fs

Molecular consequence:

NM_003924.4:c.836_843del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002678576	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Oct 25, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002678576

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Oct 25, 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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002678576.2

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

Description

The c.836_843delCCATCACC pathogenic mutation, located in coding exon 3 of the PHOX2B gene, results from a deletion of 8 nucleotides at nucleotide positions 836 to 843, causing a translational frameshift with a predicted alternate stop codon. This alteration has been identified in an infant with congenital central hypoventilation syndrome (CCHS) presenting with Hirschprung syndrome and a neural crest tumor (internal data). Frameshifts are typically deleterious in nature, and although the alteration is not expected to trigger nonsense-mediated mRNA decay due to its location, it is predicted to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation.

#	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: May 1, 2024

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