NM_001330078.2(NRXN1):c.772+1094A>C AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 27, 2017
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:: RCV002433849.2

Allele description [Variation Report for NM_001330078.2(NRXN1):c.772+1094A>C]

NM_001330078.2(NRXN1):c.772+1094A>C

Gene:

NRXN1:neurexin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

Preferred name:

NM_001330078.2(NRXN1):c.772+1094A>C

HGVS:

NC_000002.12:g.51026408T>G
NG_011878.1:g.11129A>C
NM_001135659.3:c.834A>C
NM_001330077.2:c.772+1094A>C
NM_001330078.2:c.772+1094A>CMANE SELECT
NM_001330079.2:c.772+1094A>C
NM_001330081.2:c.772+1094A>C
NM_001330082.2:c.772+1094A>C
NM_001330083.2:c.772+1094A>C
NM_001330084.2:c.772+1094A>C
NM_001330085.2:c.772+1094A>C
NM_001330086.2:c.772+1094A>C
NM_001330087.2:c.772+1094A>C
NM_001330088.2:c.772+1094A>C
NM_001330089.2:c.772+1094A>C
NM_001330090.2:c.772+1094A>C
NM_001330093.2:c.772+1094A>C
NM_001330094.2:c.772+1094A>C
NM_001330095.2:c.772+1094A>C
NM_001330096.2:c.772+1094A>C
NM_004801.6:c.772+1094A>C
NP_001129131.1:p.Lys278Asn
NC_000002.11:g.51253546T>G
NM_001135659.1:c.834A>C

Protein change:

K278N

Links:

dbSNP: rs200332062

NCBI 1000 Genomes Browser:

rs200332062

Molecular consequence:

NM_001330077.2:c.772+1094A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001330078.2:c.772+1094A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001330079.2:c.772+1094A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001330081.2:c.772+1094A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001330082.2:c.772+1094A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001330083.2:c.772+1094A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001330084.2:c.772+1094A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001330085.2:c.772+1094A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001330086.2:c.772+1094A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001330087.2:c.772+1094A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001330088.2:c.772+1094A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001330089.2:c.772+1094A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001330090.2:c.772+1094A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001330093.2:c.772+1094A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001330094.2:c.772+1094A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001330095.2:c.772+1094A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001330096.2:c.772+1094A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_004801.6:c.772+1094A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001135659.3:c.834A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002677232	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 27, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002677232

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 27, 2017)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002677232.2

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

Description

The p.K278N variant (also known as c.834A>C), located in coding exon 2 of the NRXN1 gene, results from an A to C substitution at nucleotide position 834. The lysine at codon 278 is replaced by asparagine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024

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