NM_000748.3(CHRNB2):c.109C>T (p.Leu37=) AND not provided

Clinical significance:Benign/Likely benign (Last evaluated: Oct 1, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000711174.4

Allele description [Variation Report for NM_000748.3(CHRNB2):c.109C>T (p.Leu37=)]

NM_000748.3(CHRNB2):c.109C>T (p.Leu37=)

Gene:
CHRNB2:cholinergic receptor nicotinic beta 2 subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q21.3
Genomic location:
Preferred name:
NM_000748.3(CHRNB2):c.109C>T (p.Leu37=)
HGVS:
  • NC_000001.11:g.154569506C>T
  • NG_008027.1:g.6726C>T
  • NM_000748.3:c.109C>TMANE SELECT
  • NP_000739.1:p.Leu37=
  • NC_000001.10:g.154541982C>T
  • NM_000748.2:c.109C>T
Links:
dbSNP: rs71651693
NCBI 1000 Genomes Browser:
rs71651693
Molecular consequence:
  • NM_000748.3:c.109C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000841504Athena Diagnostics Inccriteria provided, single submitter
Benign
(Jun 13, 2018)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001500394CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely benign
(Oct 1, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Athena Diagnostics Inc, SCV000841504.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001500394.2

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

Last Updated: Jul 10, 2021

Support Center