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NM_003924.4(PHOX2B):c.719_739dup (p.Ala246_Ala247insGlyAlaAlaAlaAlaAlaAla) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 14, 2014
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:
RCV002370788.2

Allele description [Variation Report for NM_003924.4(PHOX2B):c.719_739dup (p.Ala246_Ala247insGlyAlaAlaAlaAlaAlaAla)]

NM_003924.4(PHOX2B):c.719_739dup (p.Ala246_Ala247insGlyAlaAlaAlaAlaAlaAla)

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.719_739dup (p.Ala246_Ala247insGlyAlaAlaAlaAlaAlaAla)
HGVS:
  • NC_000004.12:g.41746014_41746034dup
  • NG_008243.1:g.7938_7958dup
  • NG_053075.1:g.140_160dup
  • NM_003924.4:c.719_739dupMANE SELECT
  • NP_003915.2:p.Ala246_Ala247insGlyAlaAlaAlaAlaAlaAla
  • NP_003915.2:p.Ala246_Ala247insGlyAlaAlaAlaAlaAlaAla
  • LRG_513t1:c.718_738dup
  • LRG_513:g.7938_7958dup
  • LRG_513p1:p.Ala246_Ala247insGlyAlaAlaAlaAlaAlaAla
  • NC_000004.11:g.41748031_41748051dup
  • NM_003924.3:c.718_738dup
  • NM_003924.3:c.719_739dup21
Molecular consequence:
  • NM_003924.4:c.719_739dup - 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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002670153Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 14, 2014) 		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 Ambry Genetics, SCV002670153.2

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

Description

The c.719_739dup21 variant, located in coding exon 3 of the PHOX2B gene, results from an in-frame 21 nucleotide duplication between positions 719 and 739. This results in the duplication of the residues between codons 240 and 246 (p.G240_A246dup7). This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 234 samples (468 alleles) with coverage at this position. This amino acid position is well conserved in available vertebrate species on limited alignment. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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

Last Updated: May 1, 2024