NM_003924.4(PHOX2B):c.738_806del (p.Ala247_Pro269del) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 15, 2023
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:: RCV002380411.3

Allele description [Variation Report for NM_003924.4(PHOX2B):c.738_806del (p.Ala247_Pro269del)]

NM_003924.4(PHOX2B):c.738_806del (p.Ala247_Pro269del)

Genes:

LOC110011216:paired like homeobox 2b polyalanine repeat instability region [Gene]
PHOX2B:paired like homeobox 2B [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

4p13

Genomic location:

Preferred name:

NM_003924.4(PHOX2B):c.738_806del (p.Ala247_Pro269del)

HGVS:

NC_000004.12:g.41745947_41746015del
NG_008243.1:g.7957_8025del
NG_053075.1:g.73_141del
NM_003924.4:c.738_806delMANE SELECT
NP_003915.2:p.Ala247_Pro269del
NP_003915.2:p.Ala247_Pro269del
LRG_513t1:c.737_805del69
LRG_513:g.7957_8025del
LRG_513p1:p.Ala247_Pro269del
NC_000004.11:g.41747964_41748032del
NM_003924.3:c.737_805del69
NM_003924.3:c.738_806del69

Molecular consequence:

NM_003924.4:c.738_806del - inframe_deletion - [Sequence Ontology: SO:0001822]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002672391	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jul 15, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002672391

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jul 15, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002672391.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.738_806del69 variant (also known as p.A247_P269del) is located in coding exon 3 of the PHOX2B gene. This variant results from an in-frame deletion of 69 nucleotides at nucleotide positions c.738 to c.806. This results in the in-frame deletion of 22 residues from position p.247 to p.269. This amino acid region is not conserved on limited sequence alignment. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

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