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NM_003924.4(PHOX2B):c.765_779del (p.Ala256_Ala260del) AND not provided

Germline classification:
Benign/Likely benign (3 submissions)
Last evaluated:
May 1, 2024
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:
RCV001705261.20

Allele description [Variation Report for NM_003924.4(PHOX2B):c.765_779del (p.Ala256_Ala260del)]

NM_003924.4(PHOX2B):c.765_779del (p.Ala256_Ala260del)

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.765_779del (p.Ala256_Ala260del)
HGVS:
  • NC_000004.12:g.41745984_41745998del
  • NG_008243.1:g.7984_7998del
  • NG_053075.1:g.110_124del
  • NM_003924.4:c.765_779delMANE SELECT
  • NP_003915.2:p.Ala256_Ala260del
  • NP_003915.2:p.Ala256_Ala260del
  • LRG_513t1:c.765_779del
  • LRG_513:g.7984_7998del
  • LRG_513p1:p.Ala256_Ala260del
  • NC_000004.11:g.41747990_41748004del
  • NC_000004.11:g.41748001_41748015del
  • NM_003924.3:c.765_779del
  • NM_003924.3:c.765_779delGGCAGCGGCGGCAGC
Links:
dbSNP: rs761018157
NCBI 1000 Genomes Browser:
rs761018157
Molecular consequence:
  • NM_003924.4:c.765_779del - inframe_deletion - [Sequence Ontology: SO:0001822]
Observations:
4

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000568800GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Jun 9, 2021) 		germlineclinical testing

Citation Link,

SCV004150024CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Benign
(May 1, 2024) 		germlineclinical testing

Citation Link,

SCV004563231ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)		Likely benign
(Oct 26, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes4not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000568800.4

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

Description

This variant is associated with the following publications: (PMID: 25085640, 14566559, 12640453, 14608649, 16763219, 14709596, 33468206)

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

From CeGaT Center for Human Genetics Tuebingen, SCV004150024.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided

Description

PHOX2B: BS1, BS2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided4not providednot providednot provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV004563231.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024