NM_005378.6(MYCN):c.557_558delinsTT (p.Cys186Phe) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 21, 2023
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:: RCV003224051.1

Allele description [Variation Report for NM_005378.6(MYCN):c.557_558delinsTT (p.Cys186Phe)]

NM_005378.6(MYCN):c.557_558delinsTT (p.Cys186Phe)

Gene:

MYCN:MYCN proto-oncogene, bHLH transcription factor [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

2p24.3

Genomic location:

Preferred name:

NM_005378.6(MYCN):c.557_558delinsTT (p.Cys186Phe)

HGVS:

NC_000002.12:g.15942621_15942622delinsTT
NG_007457.1:g.7061_7062delinsTT
NG_007457.2:g.7073_7074delinsTT
NM_001293228.2:c.557_558delinsTT
NM_001293231.2:c.157+1878_157+1879delinsTT
NM_001293233.2:c.*492_*493delinsTT
NM_005378.6:c.557_558delinsTTMANE SELECT
NP_001280157.1:p.Cys186Phe
NP_005369.2:p.Cys186Phe
NC_000002.11:g.16082743_16082744delinsTT
NM_005378.4:c.557_558delinsTT

Protein change:

C186F

Molecular consequence:

NM_001293233.2:c.*492_*493delinsTT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001293231.2:c.157+1878_157+1879delinsTT - intron variant - [Sequence Ontology: SO:0001627]
NM_001293228.2:c.557_558delinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_005378.6:c.557_558delinsTT - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003919683	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Apr 21, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003919683

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Apr 21, 2023)

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, SCV003919683.1

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)

#	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: Apr 30, 2023

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Relating variation to medicine