NM_000742.4(CHRNA2):c.1324C>T (p.Leu442=) AND Seizures

Clinical significance:Benign (Last evaluated: Apr 15, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000715706.1

Allele description [Variation Report for NM_000742.4(CHRNA2):c.1324C>T (p.Leu442=)]

NM_000742.4(CHRNA2):c.1324C>T (p.Leu442=)

Gene:
CHRNA2:cholinergic receptor nicotinic alpha 2 subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p21.2
Genomic location:
Preferred name:
NM_000742.4(CHRNA2):c.1324C>T (p.Leu442=)
Other names:
p.L442L:CTG>TTG
HGVS:
  • NC_000008.11:g.27463119G>A
  • NG_015827.1:g.21178C>T
  • NM_000742.4:c.1324C>TMANE SELECT
  • NM_001282455.2:c.1279C>T
  • NM_001347705.2:c.847C>T
  • NM_001347706.2:c.847C>T
  • NM_001347707.2:c.730C>T
  • NM_001347708.2:c.730C>T
  • NP_000733.2:p.Leu442=
  • NP_001269384.1:p.Leu427=
  • NP_001334634.1:p.Leu283=
  • NP_001334635.1:p.Leu283=
  • NP_001334636.1:p.Leu244=
  • NP_001334637.1:p.Leu244=
  • NC_000008.10:g.27320636G>A
  • NM_000742.3:c.1324C>T
Links:
dbSNP: rs56298562
NCBI 1000 Genomes Browser:
rs56298562
Molecular consequence:
  • NM_000742.4:c.1324C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001282455.2:c.1279C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001347705.2:c.847C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001347706.2:c.847C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001347707.2:c.730C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001347708.2:c.730C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Name:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000846537Ambry Geneticscriteria provided, single submitter
Benign
(Apr 15, 2016)
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, SCV000846537.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This alteration is classified as benign based on a combination of the following: 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
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 30, 2021

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