NM_003924.4(PHOX2B):c.753_767del (p.Ala256_Ala260del) AND Hereditary cancer-predisposing syndrome

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 25, 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:: RCV002257810.1

Allele description [Variation Report for NM_003924.4(PHOX2B):c.753_767del (p.Ala256_Ala260del)]

NM_003924.4(PHOX2B):c.753_767del (p.Ala256_Ala260del)

Genes:

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

Variant type:

Deletion

Cytogenetic location:

4p13

Genomic location:

Preferred name:

NM_003924.4(PHOX2B):c.753_767del (p.Ala256_Ala260del)

HGVS:

NC_000004.12:g.41745996_41746010del
NG_008243.1:g.7972_7986del
NG_053075.1:g.122_136del
NM_003924.3:c.753_767del15
NM_003924.4:c.753_767delMANE SELECT
NP_003915.2:p.Ala256_Ala260del
NP_003915.2:p.Ala256_Ala260del
LRG_513t1:c.753_767del
LRG_513:g.7972_7986del
LRG_513p1:p.Ala256_Ala260del
NC_000004.11:g.41748002_41748016del
NC_000004.11:g.41748013_41748027del
NM_003924.3:c.753_767del
NM_003924.3:c.753_767del15
NM_003924.3:c.753_767delGGCGGCGGCAGCGGC

Links:

dbSNP: rs779557320

NCBI 1000 Genomes Browser:

rs779557320

Molecular consequence:

NM_003924.4:c.753_767del - 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

Recent activity

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endoplasmic reticulum junction formation protein lunapark isoform a [Mus musculu...
endoplasmic reticulum junction formation protein lunapark isoform a [Mus musculus]
gi|32441290|ref|NP_081409.1|

Protein
Synthetic construct Homo sapiens clone IMAGE:100069025, MGC:199036 chromosome 8 ...
Synthetic construct Homo sapiens clone IMAGE:100069025, MGC:199036 chromosome 8 open reading frame 37 (C8orf37) mRNA, encodes complete protein
gi|225000097|gb|BC172331.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002535414	Sema4, Sema4	criteria provided, single submitter (Sema4 Curation Guidelines)	Likely benign (Jan 25, 2021)	germline	curation	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002535414

Sema4, Sema4

criteria provided, single submitter

(Sema4 Curation Guidelines)

Likely benign
(Jan 25, 2021)

germline

curation

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	curation

Details of each submission

From Sema4, Sema4, SCV002535414.1

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

#	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: Nov 3, 2024

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