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NM_001319206.4(MEF2A):c.782A>G (p.Asn261Ser) AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 1, 2022
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:
RCV003390664.13

Allele description [Variation Report for NM_001319206.4(MEF2A):c.782A>G (p.Asn261Ser)]

NM_001319206.4(MEF2A):c.782A>G (p.Asn261Ser)

Gene:
MEF2A:myocyte enhancer factor 2A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.3
Genomic location:
Preferred name:
NM_001319206.4(MEF2A):c.782A>G (p.Asn261Ser)
HGVS:
  • NC_000015.10:g.99690352A>G
  • NG_016443.2:g.129425A>G
  • NM_001130926.5:c.782A>G
  • NM_001130927.5:c.578A>G
  • NM_001130928.4:c.578A>G
  • NM_001171894.5:c.782A>G
  • NM_001319206.4:c.782A>GMANE SELECT
  • NM_001352614.4:c.782A>G
  • NM_001352615.4:c.782A>G
  • NM_001352616.4:c.782A>G
  • NM_001352617.4:c.788A>G
  • NM_001352618.4:c.800A>G
  • NM_001365201.3:c.800A>G
  • NM_001365202.3:c.800A>G
  • NM_001365203.3:c.788A>G
  • NM_001365204.3:c.788A>G
  • NM_001365205.3:c.782A>G
  • NM_001365206.3:c.800A>G
  • NM_001365207.3:c.788A>G
  • NM_001365208.3:c.782A>G
  • NM_001365209.3:c.578A>G
  • NM_001393558.2:c.584A>G
  • NM_001393559.2:c.578A>G
  • NM_001393560.2:c.670+14894A>G
  • NM_001393561.3:c.55-16377A>G
  • NM_005587.6:c.788A>G
  • NP_001124398.1:p.Asn261Ser
  • NP_001124399.1:p.Asn193Ser
  • NP_001124400.1:p.Asn193Ser
  • NP_001165365.1:p.Asn261Ser
  • NP_001306135.1:p.Asn261Ser
  • NP_001339543.1:p.Asn261Ser
  • NP_001339544.1:p.Asn261Ser
  • NP_001339545.1:p.Asn261Ser
  • NP_001339546.1:p.Asn263Ser
  • NP_001339547.1:p.Asn267Ser
  • NP_001352130.1:p.Asn267Ser
  • NP_001352131.1:p.Asn267Ser
  • NP_001352132.1:p.Asn263Ser
  • NP_001352133.1:p.Asn263Ser
  • NP_001352134.1:p.Asn261Ser
  • NP_001352135.1:p.Asn267Ser
  • NP_001352136.1:p.Asn263Ser
  • NP_001352137.1:p.Asn261Ser
  • NP_001352138.1:p.Asn193Ser
  • NP_001380487.1:p.Asn195Ser
  • NP_001380488.1:p.Asn193Ser
  • NP_005578.2:p.Asn263Ser
  • NC_000015.9:g.100230557A>G
  • NM_005587.2:c.788A>G
Protein change:
N193S; ASN263SER
Links:
OMIM: 600660.0003; dbSNP: rs121918530
NCBI 1000 Genomes Browser:
rs121918530
Molecular consequence:
  • NM_001393560.2:c.670+14894A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001393561.3:c.55-16377A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001130926.5:c.782A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130927.5:c.578A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130928.4:c.578A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171894.5:c.782A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001319206.4:c.782A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352614.4:c.782A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352615.4:c.782A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352616.4:c.782A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352617.4:c.788A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352618.4:c.800A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365201.3:c.800A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365202.3:c.800A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365203.3:c.788A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365204.3:c.788A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365205.3:c.782A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365206.3:c.800A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365207.3:c.788A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365208.3:c.782A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001365209.3:c.578A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001393558.2:c.584A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001393559.2:c.578A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005587.6:c.788A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004130998CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Benign
(Jul 1, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV004130998.13

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

MEF2A: BP4, BS1, BS2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 20, 2025