NM_203486.3(DLL3):c.1154G>A (p.Gly385Asp) AND Spondylocostal dysostosis 1, autosomal recessive

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 1, 2000
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:: RCV000007232.4

Allele description [Variation Report for NM_203486.3(DLL3):c.1154G>A (p.Gly385Asp)]

NM_203486.3(DLL3):c.1154G>A (p.Gly385Asp)

Gene:

DLL3:delta like canonical Notch ligand 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

Preferred name:

NM_203486.3(DLL3):c.1154G>A (p.Gly385Asp)

HGVS:

NC_000019.10:g.39507099G>A
NG_008256.1:g.13183G>A
NM_016941.3:c.1154G>A
NM_016941.4:c.1154G>A
NM_203486.3:c.1154G>AMANE SELECT
NP_058637.1:p.Gly385Asp
NP_982353.1:p.Gly385Asp
NC_000019.9:g.39997739G>A
Q9NYJ7:p.Gly385Asp

Protein change:

G385D; GLY385ASP

Links:

UniProtKB: Q9NYJ7#VAR_009952; OMIM: 602768.0003; dbSNP: rs104894674

NCBI 1000 Genomes Browser:

rs104894674

Molecular consequence:

NM_016941.4:c.1154G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_203486.3:c.1154G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Spondylocostal dysostosis 1, autosomal recessive (SCDO1)
Identifiers:: MONDO: MONDO:0020692; MedGen: CN032975; Orphanet: 2311; OMIM: 277300

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000027428	OMIM	no assertion criteria provided	Pathogenic (Apr 1, 2000)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000027428

OMIM

no assertion criteria provided

Pathogenic
(Apr 1, 2000)

germline

literature only

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	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.

Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD.

Nat Genet. 2000 Apr;24(4):438-41.

PubMed [citation]

PMID:: 10742114

Details of each submission

From OMIM, SCV000027428.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a consanguineous Kashmiri family segregating autosomal recessive spondylocostal dysostosis (SCDO1; 277300), Bulman et al. (2000) identified a G-to-A transition at nucleotide 1154 resulting in a gly385-to-asp (G385D) substitution in exon 8 of the DLL3 gene. As expected, all affected individuals were homozygous. Glycine at position 5 is in the fifth epidermal growth factor repeat and is highly conserved in delta proteins from Drosophila to humans. In addition, the substitution replaced a nonpolar residue with a charged polar residue.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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