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NM_001330078.2(NRXN1):c.772+1118G>A AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 28, 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:
RCV002448901.9

Allele description [Variation Report for NM_001330078.2(NRXN1):c.772+1118G>A]

NM_001330078.2(NRXN1):c.772+1118G>A

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+1118G>A
HGVS:
  • NC_000002.12:g.51026384C>T
  • NG_011878.1:g.11153G>A
  • NM_001135659.3:c.858G>A
  • NM_001330077.2:c.772+1118G>A
  • NM_001330078.2:c.772+1118G>AMANE SELECT
  • NM_001330079.2:c.772+1118G>A
  • NM_001330081.2:c.772+1118G>A
  • NM_001330082.2:c.772+1118G>A
  • NM_001330083.2:c.772+1118G>A
  • NM_001330084.2:c.772+1118G>A
  • NM_001330085.2:c.772+1118G>A
  • NM_001330086.2:c.772+1118G>A
  • NM_001330087.2:c.772+1118G>A
  • NM_001330088.2:c.772+1118G>A
  • NM_001330089.2:c.772+1118G>A
  • NM_001330090.2:c.772+1118G>A
  • NM_001330093.2:c.772+1118G>A
  • NM_001330094.2:c.772+1118G>A
  • NM_001330095.2:c.772+1118G>A
  • NM_001330096.2:c.772+1118G>A
  • NM_004801.6:c.772+1118G>A
  • NP_001129131.1:p.Lys286=
  • NC_000002.11:g.51253522C>T
  • NM_001135659.1:c.858G>A
Links:
dbSNP: rs201194822
NCBI 1000 Genomes Browser:
rs201194822
Molecular consequence:
  • NM_001330077.2:c.772+1118G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330078.2:c.772+1118G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330079.2:c.772+1118G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330081.2:c.772+1118G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330082.2:c.772+1118G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330083.2:c.772+1118G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330084.2:c.772+1118G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330085.2:c.772+1118G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330086.2:c.772+1118G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330087.2:c.772+1118G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330088.2:c.772+1118G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330089.2:c.772+1118G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330090.2:c.772+1118G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330093.2:c.772+1118G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330094.2:c.772+1118G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330095.2:c.772+1118G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330096.2:c.772+1118G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004801.6:c.772+1118G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001135659.3:c.858G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002679908Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jun 28, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002679908.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024