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NM_003924.4(PHOX2B):c.760G>A (p.Ala254Thr) AND Congenital central hypoventilation

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 28, 2017
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:
RCV000228402.12

Allele description [Variation Report for NM_003924.4(PHOX2B):c.760G>A (p.Ala254Thr)]

NM_003924.4(PHOX2B):c.760G>A (p.Ala254Thr)

Genes:
PHOX2B:paired like homeobox 2B [Gene - OMIM - HGNC]
LOC110011216:paired like homeobox 2b polyalanine repeat instability region [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
4p13
Genomic location:
Preferred name:
NM_003924.4(PHOX2B):c.760G>A (p.Ala254Thr)
HGVS:
  • NC_000004.12:g.41745992C>T
  • NG_008243.1:g.7979G>A
  • NG_053075.1:g.118C>T
  • NM_003924.4:c.760G>AMANE SELECT
  • NP_003915.2:p.Ala254Thr
  • NP_003915.2:p.Ala254Thr
  • LRG_513t1:c.760G>A
  • LRG_513:g.7979G>A
  • LRG_513p1:p.Ala254Thr
  • NC_000004.11:g.41748009C>T
  • NM_003924.3:c.760G>A
Protein change:
A254T
Links:
dbSNP: rs766767855
NCBI 1000 Genomes Browser:
rs766767855
Molecular consequence:
  • NM_003924.4:c.760G>A - missense variant - [Sequence Ontology: SO:0001583]

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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001305761Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Uncertain significance
(Apr 28, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001305761.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Oct 13, 2024