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NM_003924.4(PHOX2B):c.742G>C (p.Ala248Pro) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 11, 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:
RCV002385019.2

Allele description [Variation Report for NM_003924.4(PHOX2B):c.742G>C (p.Ala248Pro)]

NM_003924.4(PHOX2B):c.742G>C (p.Ala248Pro)

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.742G>C (p.Ala248Pro)
HGVS:
  • NC_000004.12:g.41746010C>G
  • NG_008243.1:g.7961G>C
  • NG_053075.1:g.136C>G
  • NM_003924.4:c.742G>CMANE SELECT
  • NP_003915.2:p.Ala248Pro
  • NP_003915.2:p.Ala248Pro
  • LRG_513t1:c.742G>C
  • LRG_513:g.7961G>C
  • LRG_513p1:p.Ala248Pro
  • NC_000004.11:g.41748027C>G
  • NM_003924.3:c.742G>C
Protein change:
A248P
Molecular consequence:
  • NM_003924.4:c.742G>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002671653Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 11, 2022) 		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, SCV002671653.2

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

Description

The p.A248P variant (also known as c.742G>C), located in coding exon 3 of the PHOX2B gene, results from a G to C substitution at nucleotide position 742. The alanine at codon 248 is replaced by proline, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024