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NM_001330078.2(NRXN1):c.208T>C (p.Phe70Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 31, 2012
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:
RCV000188259.1

Allele description [Variation Report for NM_001330078.2(NRXN1):c.208T>C (p.Phe70Leu)]

NM_001330078.2(NRXN1):c.208T>C (p.Phe70Leu)

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.208T>C (p.Phe70Leu)
Other names:
p.F70L:TTC>CTC
HGVS:
  • NC_000002.12:g.51028066A>G
  • NG_011878.1:g.9471T>C
  • NM_001135659.3:c.208T>C
  • NM_001330077.2:c.208T>C
  • NM_001330078.2:c.208T>CMANE SELECT
  • NM_001330079.2:c.208T>C
  • NM_001330081.2:c.208T>C
  • NM_001330082.2:c.208T>C
  • NM_001330083.2:c.208T>C
  • NM_001330084.2:c.208T>C
  • NM_001330085.2:c.208T>C
  • NM_001330086.2:c.208T>C
  • NM_001330087.2:c.208T>C
  • NM_001330088.2:c.208T>C
  • NM_001330089.2:c.208T>C
  • NM_001330090.2:c.208T>C
  • NM_001330093.2:c.208T>C
  • NM_001330094.2:c.208T>C
  • NM_001330095.2:c.208T>C
  • NM_001330096.2:c.208T>C
  • NM_004801.6:c.208T>C
  • NP_001129131.1:p.Phe70Leu
  • NP_001317006.1:p.Phe70Leu
  • NP_001317007.1:p.Phe70Leu
  • NP_001317008.1:p.Phe70Leu
  • NP_001317010.1:p.Phe70Leu
  • NP_001317011.1:p.Phe70Leu
  • NP_001317012.1:p.Phe70Leu
  • NP_001317013.1:p.Phe70Leu
  • NP_001317014.1:p.Phe70Leu
  • NP_001317015.1:p.Phe70Leu
  • NP_001317016.1:p.Phe70Leu
  • NP_001317017.1:p.Phe70Leu
  • NP_001317018.1:p.Phe70Leu
  • NP_001317019.1:p.Phe70Leu
  • NP_001317022.1:p.Phe70Leu
  • NP_001317023.1:p.Phe70Leu
  • NP_001317024.1:p.Phe70Leu
  • NP_001317025.1:p.Phe70Leu
  • NP_004792.1:p.Phe70Leu
  • NC_000002.11:g.51255204A>G
  • NM_001135659.1:c.208T>C
  • NM_004801.4:c.208T>C
Protein change:
F70L
Links:
dbSNP: rs796052773
NCBI 1000 Genomes Browser:
rs796052773
Molecular consequence:
  • NM_001135659.3:c.208T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330077.2:c.208T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330078.2:c.208T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330079.2:c.208T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330081.2:c.208T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330082.2:c.208T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330083.2:c.208T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330084.2:c.208T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330085.2:c.208T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330086.2:c.208T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330087.2:c.208T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330088.2:c.208T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330089.2:c.208T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330090.2:c.208T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330093.2:c.208T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330094.2:c.208T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330095.2:c.208T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330096.2:c.208T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004801.6:c.208T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000241869GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Aug 31, 2012) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000241869.11

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

Description

The Phe70Leu missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The NHLBI ESP Exome Variant Project has not identified Phe70Leu in approximately 6,000 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. The amino acid substitution is conservative, as both Phenylalanine and Leucine are uncharged, non-polar amino acids, and it alters a position in the protein that is not conserved. Additionally, multiple in silico algorithms predict it is likely benign. Therefore, the clinical and molecular information available at this time suggests that this variant is likely non-pathogenic; however, the possibility that it is a disease-associated mutation cannot be completely excluded. The variant is found in EPILEPSY panel(s).

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

Last Updated: Sep 29, 2024