NM_003924.4(PHOX2B):c.744G>C (p.Ala248=) AND PHOX2B-related disorder

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jul 20, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003965756.2

Allele description [Variation Report for NM_003924.4(PHOX2B):c.744G>C (p.Ala248=)]

NM_003924.4(PHOX2B):c.744G>C (p.Ala248=)

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.744G>C (p.Ala248=)

HGVS:

NC_000004.12:g.41746008C>G
NG_008243.1:g.7963G>C
NG_053075.1:g.134C>G
NM_003924.4:c.744G>CMANE SELECT
NP_003915.2:p.Ala248=
LRG_513t1:c.744G>C
LRG_513:g.7963G>C
NC_000004.11:g.41748025C>G
NM_003924.3:c.744G>C

Links:

dbSNP: rs758533453

NCBI 1000 Genomes Browser:

rs758533453

Molecular consequence:

NM_003924.4:c.744G>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: PHOX2B-related disorder
Synonyms:: PHOX2B-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004778253	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Likely benign (Jul 20, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004778253

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Likely benign
(Jul 20, 2020)

germline

clinical testing

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 PreventionGenetics, part of Exact Sciences, SCV004778253.2

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

Description

This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

#	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: Oct 13, 2024

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