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NM_003924.4(PHOX2B):c.829C>A (p.Pro277Thr) AND Congenital central hypoventilation

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 6, 2021
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:
RCV001647348.2

Allele description [Variation Report for NM_003924.4(PHOX2B):c.829C>A (p.Pro277Thr)]

NM_003924.4(PHOX2B):c.829C>A (p.Pro277Thr)

Gene:
PHOX2B:paired like homeobox 2B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p13
Genomic location:
Preferred name:
NM_003924.4(PHOX2B):c.829C>A (p.Pro277Thr)
HGVS:
  • NC_000004.12:g.41745923G>T
  • NG_008243.1:g.8048C>A
  • NG_053075.1:g.49G>T
  • NM_003924.4:c.829C>AMANE SELECT
  • NP_003915.2:p.(Pro277Thr)
  • NP_003915.2:p.Pro277Thr
  • LRG_513t1:c.829C>A
  • LRG_513:g.8048C>A
  • NC_000004.11:g.41747940G>T
  • NM_003924.3:c.829C>A
Protein change:
P277T
Links:
dbSNP: rs1469920302
NCBI 1000 Genomes Browser:
rs1469920302
Molecular consequence:
  • NM_003924.4:c.829C>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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001737540The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 6, 2021) 		germlineresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Han Chinesegermlineyes1not providednot providednot providednot providedresearch

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

Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit.

Liu J, Zheng Y, Huang J, Zhu D, Zang P, Luo Z, Yang Y, Peng Y, Xiao Z, Zhu Y, Lu X.

Hum Mutat. 2021 Nov;42(11):1443-1460. doi: 10.1002/humu.24266. Epub 2021 Aug 15.

PubMed [citation]
PMID:
34298581
PMCID:
PMC9292147

Details of each submission

From The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital, SCV001737540.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Han Chinese1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024