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NM_000744.7(CHRNA4):c.621C>T (p.Gly207=) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 25, 2013
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:
RCV000186928.1

Allele description [Variation Report for NM_000744.7(CHRNA4):c.621C>T (p.Gly207=)]

NM_000744.7(CHRNA4):c.621C>T (p.Gly207=)

Gene:
CHRNA4:cholinergic receptor nicotinic alpha 4 subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.33
Genomic location:
Preferred name:
NM_000744.7(CHRNA4):c.621C>T (p.Gly207=)
Other names:
p.G207G:GGC>GGT
HGVS:
  • NC_000020.11:g.63350790G>A
  • NG_011931.1:g.15554C>T
  • NM_000744.6:c.621C>T
  • NM_000744.7:c.621C>TMANE SELECT
  • NM_001256573.2:c.93C>T
  • NP_000735.1:p.Gly207=
  • NP_001243502.1:p.Gly31=
  • NC_000020.10:g.61982142G>A
  • NM_000744.5:c.621C>T
  • NR_046317.2:n.830C>T
Links:
dbSNP: rs149407396
NCBI 1000 Genomes Browser:
rs149407396
Molecular consequence:
  • NR_046317.2:n.830C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000744.7:c.621C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001256573.2:c.93C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000240499GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jun 25, 2013) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000240499.10

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

Description

c.621 C>T:p.Gly207Gly (GGC>GGT) in exon 5 of the CHRNA4 gene (NM_000744.5)The c.621 C>T nucleotide substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. Multiple in-silico algorithms predict that the c.621 C>T substitution could potentially create a new cryptic donor site that may supplant the natural site in exon 5 and lead to abnormal splicing. However, in the absence of RNA/functional and clinical studies, the actual effect of the c.621 C>T sequence change is unknown. The variant is found in EPILEPSY panel(s).

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

Last Updated: Oct 13, 2024