NM_005378.6(MYCN):c.1211T>G (p.Leu404Arg) AND Feingold syndrome type 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 1, 2018
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:: RCV003237315.1

Allele description [Variation Report for NM_005378.6(MYCN):c.1211T>G (p.Leu404Arg)]

NM_005378.6(MYCN):c.1211T>G (p.Leu404Arg)

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.1211T>G (p.Leu404Arg)

HGVS:

NC_000002.12:g.15945913T>G
NG_007457.1:g.10353T>G
NG_007457.2:g.10365T>G
NM_001293228.2:c.1211T>G
NM_001293231.2:c.578T>G
NM_001293233.2:c.*1146T>G
NM_005378.6:c.1211T>GMANE SELECT
NP_001280157.1:p.Leu404Arg
NP_001280160.1:p.Leu193Arg
NP_005369.2:p.Leu404Arg
NC_000002.11:g.16086035T>G
NM_005378.5:c.1211T>G

Protein change:

L193R

Molecular consequence:

NM_001293233.2:c.*1146T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001293228.2:c.1211T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001293231.2:c.578T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_005378.6:c.1211T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003935978	Molecular Diagnostics Lab, Nemours Children's Health, Delaware	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Feb 1, 2018)	maternal, unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003935978

Molecular Diagnostics Lab, Nemours Children's Health, Delaware

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Feb 1, 2018)

maternal, unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	yes	1	not provided	not provided	1	yes	clinical testing
not provided	unknown	yes	1	not provided	not provided	1	yes	clinical testing

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 Molecular Diagnostics Lab, Nemours Children's Health, Delaware, SCV003935978.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	yes	clinical testing (GTR000273061.2)	PubMed (1)
2	not provided	1	not provided	yes	clinical testing (GTR000273061.2)	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	yes	1	blood	not provided	(GTR000273061.2)	1	not provided	not provided	not provided
2	unknown	yes	1	blood	not provided	(GTR000273061.2)	1	not provided	not provided	not provided

Last Updated: Apr 6, 2024

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