NM_003924.4(PHOX2B):c.729_764dup (p.Ala260_Gly261insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 11, 2019
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:: RCV002382681.2

Allele description [Variation Report for NM_003924.4(PHOX2B):c.729_764dup (p.Ala260_Gly261insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)]

NM_003924.4(PHOX2B):c.729_764dup (p.Ala260_Gly261insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)

Genes:

PHOX2B:paired like homeobox 2B [Gene - OMIM - HGNC]
LOC110011216:paired like homeobox 2b polyalanine repeat instability region [Gene]

Variant type:

Duplication

Cytogenetic location:

4p13

Genomic location:

Preferred name:

NM_003924.4(PHOX2B):c.729_764dup (p.Ala260_Gly261insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)

HGVS:

NC_000004.12:g.41745993_41746028dup
NG_008243.1:g.7948_7983dup
NG_053075.1:g.119_154dup
NM_003924.4:c.729_764dupMANE SELECT
NP_003915.2:p.Ala260_Gly261insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla
NP_003915.2:p.Ala260_Gly261insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla
LRG_513t1:c.724_759dup
LRG_513:g.7948_7983dup
LRG_513p1:p.Ala260_Gly261insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla
NC_000004.11:g.41748010_41748045dup
NM_003924.3:c.724_759dup
NM_003924.3:c.729_764dupAGCGGCGGCGGCCGCGGCAGCGGCGGCGGCGGCAGC

Molecular consequence:

NM_003924.4:c.729_764dup - inframe_insertion - [Sequence Ontology: SO:0001821]

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
SCV002671551	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Jul 11, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002671551

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Jul 11, 2019)

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, SCV002671551.2

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

Description

The p.Ala241[32] pathogenic mutation, located in coding exon 3 of the PHOX2B gene, results from an expansion of the polyalanine repeat region from 20 to 32 repeats. This expansion mutation has not been reported previously; however, similar expansions to 31 and 33 repeats are associated with congenital central hypoventilation syndrome (Matera I et al. J. Med. Genet., 2004 May;41:373-80). Based on the supporting evidence, 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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