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NM_001330078.2(NRXN1):c.4248G>A (p.Pro1416=) AND History of neurodevelopmental disorder

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 3, 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:
RCV000719951.2

Allele description [Variation Report for NM_001330078.2(NRXN1):c.4248G>A (p.Pro1416=)]

NM_001330078.2(NRXN1):c.4248G>A (p.Pro1416=)

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.4248G>A (p.Pro1416=)
HGVS:
  • NC_000002.12:g.49922220C>T
  • NG_011878.1:g.1115317G>A
  • NM_001135659.3:c.4368G>A
  • NM_001320156.4:c.153G>A
  • NM_001320157.4:c.144G>A
  • NM_001330077.2:c.4224G>A
  • NM_001330078.2:c.4248G>AMANE SELECT
  • NM_001330082.2:c.4215G>A
  • NM_001330083.2:c.4083G>A
  • NM_001330084.2:c.4182G>A
  • NM_001330085.2:c.4221G>A
  • NM_001330086.2:c.4239G>A
  • NM_001330087.2:c.4047G>A
  • NM_001330088.2:c.4068G>A
  • NM_001330091.2:c.1134G>A
  • NM_001330092.2:c.1143G>A
  • NM_001330093.2:c.4245G>A
  • NM_001330094.2:c.4227G>A
  • NM_001330095.2:c.4107G>A
  • NM_001330096.2:c.4038G>A
  • NM_001330097.2:c.1044G>A
  • NM_004801.6:c.4158G>A
  • NM_138735.5:c.1053G>A
  • NP_001129131.1:p.Pro1456=
  • NP_001307085.1:p.Pro51=
  • NP_001307086.1:p.Pro48=
  • NP_001317006.1:p.Pro1408=
  • NP_001317007.1:p.Pro1416=
  • NP_001317011.1:p.Pro1405=
  • NP_001317012.1:p.Pro1361=
  • NP_001317013.1:p.Pro1394=
  • NP_001317014.1:p.Pro1407=
  • NP_001317015.1:p.Pro1413=
  • NP_001317016.1:p.Pro1349=
  • NP_001317017.1:p.Pro1356=
  • NP_001317020.1:p.Pro378=
  • NP_001317021.1:p.Pro381=
  • NP_001317022.1:p.Pro1415=
  • NP_001317023.1:p.Pro1409=
  • NP_001317024.1:p.Pro1369=
  • NP_001317025.1:p.Pro1346=
  • NP_001317026.1:p.Pro348=
  • NP_004792.1:p.Pro1386=
  • NP_620072.1:p.Pro351=
  • NC_000002.11:g.50149358C>T
  • NM_001135659.1:c.4368G>A
Links:
dbSNP: rs151195816
NCBI 1000 Genomes Browser:
rs151195816
Molecular consequence:
  • NM_001135659.3:c.4368G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001320156.4:c.153G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001320157.4:c.144G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001330077.2:c.4224G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001330078.2:c.4248G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001330082.2:c.4215G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001330083.2:c.4083G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001330084.2:c.4182G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001330085.2:c.4221G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001330086.2:c.4239G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001330087.2:c.4047G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001330088.2:c.4068G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001330091.2:c.1134G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001330092.2:c.1143G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001330093.2:c.4245G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001330094.2:c.4227G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001330095.2:c.4107G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001330096.2:c.4038G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001330097.2:c.1044G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004801.6:c.4158G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_138735.5:c.1053G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Name:
History of neurodevelopmental disorder
Identifiers:
MedGen: C2711754

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000850824Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))
Likely benign
(Feb 3, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000850824.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

In silico models in agreement (benign) ;Synonymous alterations with insufficient evidence to classify as benign

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Feb 20, 2024