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NM_000742.4(CHRNA2):c.1248G>C (p.Val416=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 29, 2018
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:
RCV002388155.2

Allele description [Variation Report for NM_000742.4(CHRNA2):c.1248G>C (p.Val416=)]

NM_000742.4(CHRNA2):c.1248G>C (p.Val416=)

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.1248G>C (p.Val416=)
HGVS:
  • NC_000008.11:g.27463195C>G
  • NG_015827.1:g.21102G>C
  • NM_000742.4:c.1248G>CMANE SELECT
  • NM_001282455.2:c.1203G>C
  • NM_001347705.2:c.771G>C
  • NM_001347706.2:c.771G>C
  • NM_001347707.2:c.654G>C
  • NM_001347708.2:c.654G>C
  • NP_000733.2:p.Val416=
  • NP_001269384.1:p.Val401=
  • NP_001334634.1:p.Val257=
  • NP_001334635.1:p.Val257=
  • NP_001334636.1:p.Val218=
  • NP_001334637.1:p.Val218=
  • NC_000008.10:g.27320712C>G
  • NM_000742.3:c.1248G>C
Links:
dbSNP: rs370878600
NCBI 1000 Genomes Browser:
rs370878600
Molecular consequence:
  • NM_000742.4:c.1248G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001282455.2:c.1203G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001347705.2:c.771G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001347706.2:c.771G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001347707.2:c.654G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001347708.2:c.654G>C - 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
SCV002672229Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Dec 29, 2018) 		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, SCV002672229.2

#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: Sep 29, 2024