NM_003924.4(PHOX2B):c.741_755dup (p.Ala256_Ala260dup) AND Congenital central hypoventilation

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 28, 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:: RCV000987442.1

Allele description [Variation Report for NM_003924.4(PHOX2B):c.741_755dup (p.Ala256_Ala260dup)]

NM_003924.4(PHOX2B):c.741_755dup (p.Ala256_Ala260dup)

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.741_755dup (p.Ala256_Ala260dup)

HGVS:

NC_000004.12:g.41746005_41746019dup
NG_008243.1:g.7960_7974dup
NG_053075.1:g.131_145dup
NM_003924.4:c.741_755dupMANE SELECT
NP_003915.2:p.Ala256_Ala260dup
LRG_513t1:c.741_755dup
LRG_513:g.7960_7974dup
NC_000004.11:g.41748013_41748014insGCCGCCGCTGCCGCG
NC_000004.11:g.41748022_41748036dup
NM_003924.3:c.741_755dupCGCGGCAGCGGCGGC

Links:

dbSNP: rs775006915

NCBI 1000 Genomes Browser:

rs775006915

Molecular consequence:

NM_003924.4:c.741_755dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: Congenital central hypoventilation
Synonyms:: Idiopathic congenital central alveolar hypoventilation; Congenital failure of autonomic control; Primary alveolar hypoventilation; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0800031; MedGen: C1275808; Orphanet: 661; Orphanet: 99803; OMIM: PS209880

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001136732	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Pathogenic (May 28, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001136732

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Pathogenic
(May 28, 2019)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001136732.1

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

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

Last Updated: May 1, 2024

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