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NM_005378.6(MYCN):c.1287T>G (p.Tyr429Ter) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 26, 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:
RCV003332446.1

Allele description [Variation Report for NM_005378.6(MYCN):c.1287T>G (p.Tyr429Ter)]

NM_005378.6(MYCN):c.1287T>G (p.Tyr429Ter)

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.1287T>G (p.Tyr429Ter)
HGVS:
  • NC_000002.12:g.15945989T>G
  • NG_007457.1:g.10429T>G
  • NG_007457.2:g.10441T>G
  • NM_001293228.2:c.1287T>G
  • NM_001293231.2:c.654T>G
  • NM_001293233.2:c.*1222T>G
  • NM_005378.6:c.1287T>GMANE SELECT
  • NP_001280157.1:p.Tyr429Ter
  • NP_001280160.1:p.Tyr218Ter
  • NP_005369.2:p.Tyr429Ter
  • NC_000002.11:g.16086111T>G
  • NM_005378.4:c.1287T>G
Protein change:
Y218*
Molecular consequence:
  • NM_001293233.2:c.*1222T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001293228.2:c.1287T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001293231.2:c.654T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_005378.6:c.1287T>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004039606GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(Sep 26, 2023) 		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, SCV004039606.1

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

Description

Nonsense variant predicted to result in protein truncation, as the last 36 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Oct 7, 2023