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NM_005378.6(MYCN):c.813A>G (p.Glu271=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 8, 2016
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:
RCV000438403.1

Allele description [Variation Report for NM_005378.6(MYCN):c.813A>G (p.Glu271=)]

NM_005378.6(MYCN):c.813A>G (p.Glu271=)

Gene:
MYCN:MYCN proto-oncogene, bHLH transcription factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p24.3
Genomic location:
Preferred name:
NM_005378.6(MYCN):c.813A>G (p.Glu271=)
HGVS:
  • NC_000002.12:g.15945515A>G
  • NG_007457.1:g.9955A>G
  • NM_001293228.2:c.813A>G
  • NM_001293231.2:c.180A>G
  • NM_001293233.2:c.*748A>G
  • NM_005378.6:c.813A>GMANE SELECT
  • NP_001280157.1:p.Glu271=
  • NP_001280160.1:p.Glu60=
  • NP_005369.2:p.Glu271=
  • NC_000002.11:g.16085637A>G
  • NM_005378.4:c.813A>G
Links:
dbSNP: rs1057521388
NCBI 1000 Genomes Browser:
rs1057521388
Molecular consequence:
  • NM_001293233.2:c.*748A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001293228.2:c.813A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001293231.2:c.180A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_005378.6:c.813A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000522528GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Jan 8, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000522528.4

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Apr 23, 2022