NM_003924.4(PHOX2B):c.750GGC[7] (p.Ala260_Gly261insAlaAlaAla) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 6, 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:: RCV002510038.1

Allele description [Variation Report for NM_003924.4(PHOX2B):c.750GGC[7] (p.Ala260_Gly261insAlaAlaAla)]

NM_003924.4(PHOX2B):c.750GGC[7] (p.Ala260_Gly261insAlaAlaAla)

Genes:

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

Variant type:

Microsatellite

Cytogenetic location:

4p13

Genomic location:

Preferred name:

NM_003924.4(PHOX2B):c.750GGC[7] (p.Ala260_Gly261insAlaAlaAla)

HGVS:

NC_000004.12:g.41745993CGC[7]
NG_008243.1:g.7969GGC[7]
NG_053075.1:g.119CGC[7]
NM_003924.4:c.750GGC[7]MANE SELECT
NP_003915.2:p.Ala260_Gly261insAlaAlaAla
NP_003915.2:p.Ala260_Gly261insAlaAlaAla
LRG_513t1:c.748_750GCG[7]
LRG_513:g.7969GGC[7]
LRG_513p1:p.Ala260_Gly261insAlaAlaAla
NC_000004.11:g.41748010CGC[7]
NM_003924.3:c.748_750GCG[7]
NM_003924.3:c.753_761dup

Molecular consequence:

NM_003924.4:c.750GGC[7] - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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POMGNT2 [Geospiza fortis]
POMGNT2 [Geospiza fortis]
Gene ID:102034462

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002818750	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jul 6, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002818750

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jul 6, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV002818750.1

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

Description

In-frame insertion of 3 amino acids in a Polyalanine repeat region; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jan 21, 2023

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