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NM_003924.4(PHOX2B):c.642C>T (p.Gly214=) AND not provided

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Feb 1, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001591116.8

Allele description [Variation Report for NM_003924.4(PHOX2B):c.642C>T (p.Gly214=)]

NM_003924.4(PHOX2B):c.642C>T (p.Gly214=)

Gene:
PHOX2B:paired like homeobox 2B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p13
Genomic location:
Preferred name:
NM_003924.4(PHOX2B):c.642C>T (p.Gly214=)
HGVS:
  • NC_000004.12:g.41746110G>A
  • NG_008243.1:g.7861C>T
  • NG_053075.1:g.236G>A
  • NM_003924.4:c.642C>TMANE SELECT
  • NP_003915.2:p.Gly214=
  • NP_003915.2:p.Gly214=
  • LRG_513t1:c.642C>T
  • LRG_513:g.7861C>T
  • LRG_513p1:p.Gly214=
  • NC_000004.11:g.41748127G>A
  • NM_003924.3:c.642C>T
Links:
dbSNP: rs190973308
NCBI 1000 Genomes Browser:
rs190973308
Molecular consequence:
  • NM_003924.4:c.642C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001825797GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(Apr 10, 2020)
germlineclinical testing

Citation Link,

SCV004150030CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Likely benign
(Feb 1, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV001825797.1

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

Description

This variant is associated with the following publications: (PMID: 31444792, 16830328)

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

From CeGaT Center for Human Genetics Tuebingen, SCV004150030.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided

Description

PHOX2B: BP4, BP7

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: May 12, 2024