NM_052867.4(NALCN):c.4976_4978dup (p.Asp1659dup) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 18, 2021
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:: RCV001541417.2

Allele description [Variation Report for NM_052867.4(NALCN):c.4976_4978dup (p.Asp1659dup)]

NM_052867.4(NALCN):c.4976_4978dup (p.Asp1659dup)

Genes:

NALCN-AS1:NALCN antisense RNA 1 [Gene - HGNC]
NALCN:sodium leak channel, non-selective [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

13q32.3

Genomic location:

Preferred name:

NM_052867.4(NALCN):c.4976_4978dup (p.Asp1659dup)

HGVS:

NC_000013.11:g.101057986_101057988dup
NG_053176.1:g.364221_364223dup
NM_001350748.2:c.5063_5065dup
NM_001350749.2:c.4976_4978dup
NM_001350750.2:c.4889_4891dup
NM_001350751.2:c.4889_4891dup
NM_052867.4:c.4976_4978dupMANE SELECT
NP_001337677.1:p.Asp1688dup
NP_001337678.1:p.Asp1659dup
NP_001337679.1:p.Asp1630dup
NP_001337680.1:p.Asp1630dup
NP_443099.1:p.Asp1659dup
NC_000013.10:g.101710338_101710340dup
NM_052867.2:c.4976_4978dupACG
NR_047687.1:n.1546_1548dup

Links:

dbSNP: rs1408917410

NCBI 1000 Genomes Browser:

rs1408917410

Molecular consequence:

NM_001350748.2:c.5063_5065dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001350749.2:c.4976_4978dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001350750.2:c.4889_4891dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001350751.2:c.4889_4891dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_052867.4:c.4976_4978dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NR_047687.1:n.1546_1548dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001759414	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jun 18, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001759414

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jun 18, 2021)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001759414.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Not observed at significant frequency in large population cohorts (Lek et al., 2016); In-frame insertion of 1 amino acid in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)

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

Last Updated: Dec 24, 2023

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