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NM_003924.4(PHOX2B):c.728C>T (p.Ala243Val) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 30, 2013
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:
RCV001026232.1

Allele description [Variation Report for NM_003924.4(PHOX2B):c.728C>T (p.Ala243Val)]

NM_003924.4(PHOX2B):c.728C>T (p.Ala243Val)

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.728C>T (p.Ala243Val)
HGVS:
  • NC_000004.12:g.41746024G>A
  • NG_008243.1:g.7947C>T
  • NG_053075.1:g.150G>A
  • NM_003924.4:c.728C>TMANE SELECT
  • NP_003915.2:p.Ala243Val
  • NP_003915.2:p.Ala243Val
  • LRG_513t1:c.728C>T
  • LRG_513:g.7947C>T
  • LRG_513p1:p.Ala243Val
  • NC_000004.11:g.41748041G>A
  • NM_003924.3:c.728C>T
Protein change:
A243V
Links:
dbSNP: rs1482074468
NCBI 1000 Genomes Browser:
rs1482074468
Molecular consequence:
  • NM_003924.4:c.728C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV001188573Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Uncertain significance
(Sep 30, 2013) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV001188573.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.A243V variant (also known as c.728C>T) is located in coding exon 3 of the PHOX2B gene. This alteration results from a C to T substitution at nucleotide position 728. The alanine at codon 243, which is the third alanine of the polyalanine repeat tract, is replaced by valine, an amino acid with similar properties. Based on protein sequence alignment, this amino acid position is not well conserved and the polyalanine repeat number is variable in available vertebrate species. 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. To date, this alteration has been detected one time in our clinical cohort. This variant is predicted to be benign by PolyPhen and tolerated by SIFT in silico analyses. Since supporting evidence is limited at this time, the clinical significance of p.A243V remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024