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NM_003836.7(DLK1):c.194A>G (p.His65Arg) AND Silver-Russell syndrome 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 15, 2021
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:
RCV001374439.1

Allele description [Variation Report for NM_003836.7(DLK1):c.194A>G (p.His65Arg)]

NM_003836.7(DLK1):c.194A>G (p.His65Arg)

Gene:
DLK1:delta like non-canonical Notch ligand 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.2
Genomic location:
Preferred name:
NM_003836.7(DLK1):c.194A>G (p.His65Arg)
HGVS:
  • NC_000014.9:g.100728998A>G
  • NG_016863.3:g.7134A>G
  • NM_001317172.2:c.194A>G
  • NM_003836.7:c.194A>GMANE SELECT
  • NP_001304101.2:p.His65Arg
  • NP_003827.4:p.His65Arg
  • LRG_1044t1:c.194A>G
  • LRG_1044:g.7134A>G
  • LRG_1044p1:p.His65Arg
  • NC_000014.8:g.101195335A>G
  • NG_016863.2:g.7134A>G
  • NM_003836.6:c.194A>G
Protein change:
H65R
Links:
dbSNP: rs147224004
NCBI 1000 Genomes Browser:
rs147224004
Molecular consequence:
  • NM_001317172.2:c.194A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003836.7:c.194A>G - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
Unknown function
Observations:
1

Condition(s)

Name:
Silver-Russell syndrome 1 (SRS1)
Identifiers:
MONDO: MONDO:0020796; MedGen: C5393125; Orphanet: 813; OMIM: 180860

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001571252Departement de Genetique, Biologie Moleculaire Endocrinienne, Assistance Publique–Hôpitaux de Paris, Hopital Trousseau
no assertion criteria provided
Uncertain significance
(Apr 15, 2021) 		maternalclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Departement de Genetique, Biologie Moleculaire Endocrinienne, Assistance Publique–Hôpitaux de Paris, Hopital Trousseau, SCV001571252.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided

Description

The p.(His65Arg) has been identified in the heterozygous state in a patient with a clinical suspicion of Silver Russell syndrome. ). His65 is located within the second EGF-like motif of the extracellular domain of DLK1. This variant was inherited from her healthy mother, who carried the same heterozygous variant. As DLK1 is a maternally imprinted/paternally expressed gene, this variant is unlikely to explain the phenotype of the patient

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 12, 2024