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NM_005378.6(MYCN):c.231G>A (p.Trp77Ter) AND Feingold syndrome type 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 2008
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000014909.28

Allele description [Variation Report for NM_005378.6(MYCN):c.231G>A (p.Trp77Ter)]

NM_005378.6(MYCN):c.231G>A (p.Trp77Ter)

Genes:
MYCNOS:MYCN opposite strand [Gene - OMIM - HGNC]
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.231G>A (p.Trp77Ter)
HGVS:
  • NC_000002.12:g.15942295G>A
  • NG_007457.1:g.6735G>A
  • NM_001293228.2:c.231G>A
  • NM_001293231.2:c.157+1552G>A
  • NM_001293233.2:c.*166G>A
  • NM_005378.6:c.231G>AMANE SELECT
  • NP_001280157.1:p.Trp77Ter
  • NP_005369.2:p.Trp77Ter
  • NC_000002.11:g.16082417G>A
  • NR_161163.1:n.139C>T
Protein change:
W77*; TRP77TER
Links:
OMIM: 164840.0007; dbSNP: rs121913667
NCBI 1000 Genomes Browser:
rs121913667
Molecular consequence:
  • NM_001293233.2:c.*166G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001293231.2:c.157+1552G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NR_161163.1:n.139C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001293228.2:c.231G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_005378.6:c.231G>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000035164OMIM
no assertion criteria provided
Pathogenic
(Sep 1, 2008) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Genotype-phenotype correlations in MYCN-related Feingold syndrome.

Marcelis CL, Hol FA, Graham GE, Rieu PN, Kellermayer R, Meijer RP, Lugtenberg D, Scheffer H, van Bokhoven H, Brunner HG, de Brouwer AP.

Hum Mutat. 2008 Sep;29(9):1125-32. doi: 10.1002/humu.20750.

PubMed [citation]
PMID:
18470948

Details of each submission

From OMIM, SCV000035164.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a family with Feingold syndrome (FGLDS1; 164280), Marcelis et al. (2008) identified a heterozygous 231G-A transition in exon 2 of the MYCN gene, resulting in a trp77-to-ter (W77X) substitution that segregated with disease.

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

Last Updated: Apr 6, 2024