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NM_005378.6(MYCN):c.1274_1283del (p.Lys425fs) AND Feingold syndrome type 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 20, 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:
RCV003223508.2

Allele description [Variation Report for NM_005378.6(MYCN):c.1274_1283del (p.Lys425fs)]

NM_005378.6(MYCN):c.1274_1283del (p.Lys425fs)

Gene:
MYCN:MYCN proto-oncogene, bHLH transcription factor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p24.3
Genomic location:
Preferred name:
NM_005378.6(MYCN):c.1274_1283del (p.Lys425fs)
HGVS:
  • NC_000002.12:g.15945976_15945985del
  • NG_007457.1:g.10416_10425del
  • NG_007457.2:g.10428_10437del
  • NM_001293228.2:c.1274_1283del
  • NM_001293231.2:c.641_650del
  • NM_001293233.2:c.*1209_*1218del
  • NM_005378.6:c.1274_1283delMANE SELECT
  • NP_001280157.1:p.Lys425fs
  • NP_001280160.1:p.Lys214fs
  • NP_005369.2:p.Lys425fs
  • NC_000002.11:g.16086098_16086107del
  • NM_005378.4:c.1274_1283del10
Protein change:
K214fs
Molecular consequence:
  • NM_001293233.2:c.*1209_*1218del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001293228.2:c.1274_1283del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001293231.2:c.641_650del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_005378.6:c.1274_1283del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Feingold syndrome type 1 (FGLDS1)
Synonyms:
MICROCEPHALY, MENTAL RETARDATION, AND TRACHEOESOPHAGEAL FISTULA SYNDROME; Oculodigitoesophagoduodenal syndrome; Microcephaly-oculo-digito-esophageal-duodenal syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008115; MedGen: C4551774; Orphanet: 1305; Orphanet: 391641; OMIM: 164280

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003918988Duke University Health System Sequencing Clinic, Duke University Health System
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Apr 20, 2023) 		de novoresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Duke University Health System Sequencing Clinic, Duke University Health System, SCV003918988.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 6, 2024