NM_003924.4(PHOX2B):c.828_829insACCGGC (p.Gly276_Pro277insThrGly) AND Haddad syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 23, 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:: RCV003012007.3

Allele description [Variation Report for NM_003924.4(PHOX2B):c.828_829insACCGGC (p.Gly276_Pro277insThrGly)]

NM_003924.4(PHOX2B):c.828_829insACCGGC (p.Gly276_Pro277insThrGly)

Gene:

PHOX2B:paired like homeobox 2B [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

4p13

Genomic location:

Preferred name:

NM_003924.4(PHOX2B):c.828_829insACCGGC (p.Gly276_Pro277insThrGly)

HGVS:

NC_000004.12:g.41745928_41745929insTGCCGG
NG_008243.1:g.8047_8048insACCGGC
NG_053075.1:g.54_55insTGCCGG
NM_003924.4:c.828_829insACCGGCMANE SELECT
NP_003915.2:p.Gly276_Pro277insThrGly
NP_003915.2:p.Gly276_Pro277insThrGly
LRG_513t1:c.823_824insCCGGCA
LRG_513:g.8047_8048insACCGGC
LRG_513p1:p.Gly276_Pro277insThrGly
NC_000004.11:g.41747940_41747941insGCCGGT
NC_000004.11:g.41747945_41747946insTGCCGG
NM_003924.3:c.823_824insCCGGCA

Molecular consequence:

NM_003924.4:c.828_829insACCGGC - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: Haddad syndrome (OHD)
Synonyms:: Ondine-Hirschsprung disease
Identifiers:: MONDO: MONDO:0020493; MedGen: C1859049; Orphanet: 99803

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003306768	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jan 23, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003306768

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jan 23, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003306768.2

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with PHOX2B-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.828_829insACCGGC, results in the insertion of 2 amino acid(s) of the PHOX2B protein (p.Gly276_Pro277insThrGly), but otherwise preserves the integrity of the reading frame.

#	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: Sep 29, 2024

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