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NM_000742.4(CHRNA2):c.937C>T (p.Leu313Phe) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Dec 6, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000266134.6

Allele description [Variation Report for NM_000742.4(CHRNA2):c.937C>T (p.Leu313Phe)]

NM_000742.4(CHRNA2):c.937C>T (p.Leu313Phe)

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.937C>T (p.Leu313Phe)
HGVS:
  • NC_000008.11:g.27463506G>A
  • NG_015827.1:g.20791C>T
  • NM_000742.4:c.937C>TMANE SELECT
  • NM_001282455.2:c.892C>T
  • NM_001347705.2:c.460C>T
  • NM_001347706.2:c.460C>T
  • NM_001347707.2:c.343C>T
  • NM_001347708.2:c.343C>T
  • NP_000733.2:p.Leu313Phe
  • NP_001269384.1:p.Leu298Phe
  • NP_001334634.1:p.Leu154Phe
  • NP_001334635.1:p.Leu154Phe
  • NP_001334636.1:p.Leu115Phe
  • NP_001334637.1:p.Leu115Phe
  • NC_000008.10:g.27321023G>A
  • NM_000742.3:c.937C>T
Protein change:
L115F
Links:
Molecular consequence:
  • NM_000742.4:c.937C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282455.2:c.892C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347705.2:c.460C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347706.2:c.460C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347707.2:c.343C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001347708.2:c.343C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000333409Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)
Uncertain significance
(May 23, 2018)
germlineclinical testing

Citation Link,

SCV003930560GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Uncertain significance
(Dec 6, 2022)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000333409.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV003930560.1

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

Description

De novo variant with confirmed parentage in a patient referred for genetic testing at GeneDx; however, the reported clinical features are only partially consistent with the features typically observed in individuals with pathogenic variants in this gene; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Jun 23, 2024