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NM_003924.4(PHOX2B):c.765_779dup (p.Ala256_Ala260dup) AND PHOX2B-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 22, 2022
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:
RCV003431046.4

Allele description [Variation Report for NM_003924.4(PHOX2B):c.765_779dup (p.Ala256_Ala260dup)]

NM_003924.4(PHOX2B):c.765_779dup (p.Ala256_Ala260dup)

Gene:
PHOX2B:paired like homeobox 2B [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
4p13
Genomic location:
Preferred name:
NM_003924.4(PHOX2B):c.765_779dup (p.Ala256_Ala260dup)
HGVS:
  • NC_000004.12:g.41745984_41745998dup
  • NG_008243.1:g.7984_7998dup
  • NG_053075.1:g.110_124dup
  • NM_003924.3:c.765_779dup15
  • NM_003924.4:c.765_779dupMANE SELECT
  • NP_003915.2:p.Ala256_Ala260dup
  • NP_003915.2:p.Ala256_Ala260dup
  • LRG_513t1:c.765_779dup
  • LRG_513:g.7984_7998dup
  • LRG_513p1:p.Ala256_Ala260dup
  • NC_000004.11:g.41748001_41748015dup
  • NM_003924.3:c.765_779dup
  • NM_003924.3:c.765_779dup15
  • NM_003924.3:c.765_779dupGGCAGCGGCGGCAGC
Links:
dbSNP: rs761018157
NCBI 1000 Genomes Browser:
rs761018157
Molecular consequence:
  • NM_003924.4:c.765_779dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:
PHOX2B-related disorder
Synonyms:
PHOX2B-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004116577PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 22, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004116577.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The PHOX2B c.765_779dup15 variant is predicted to result in an in-frame duplication (p.Ala256_Ala260dup). An expansion of the polyalanine repeat region from 20 repeats (normal) to 25 repeats has previously been reported to be causative for CCHS (Serra et al. 2010. PubMed ID: 20456320; Ribeiro et al. 2021. PubMed ID: 34168928; Rojnueangnit and Descartes. 2018. PubMed ID: 29531718; Falik et al. 2020. PubMed ID: 32822965). This variant is not present in a large population database (http://gnomad.broadinstitute.org) and is classified as pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/RCV000494462.1/). This variant is interpreted as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024