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NM_207034.3(EDN3):c.426G>A (p.Ala142=) AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Feb 16, 2017
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:
RCV000615923.6

Allele description [Variation Report for NM_207034.3(EDN3):c.426G>A (p.Ala142=)]

NM_207034.3(EDN3):c.426G>A (p.Ala142=)

Gene:
EDN3:endothelin 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.32
Genomic location:
Preferred name:
NM_207034.3(EDN3):c.426G>A (p.Ala142=)
HGVS:
  • NC_000020.11:g.59321077G>A
  • NG_008050.1:g.25634G>A
  • NM_001302455.2:c.426G>A
  • NM_001302456.2:c.426G>A
  • NM_207032.3:c.426G>A
  • NM_207033.3:c.426G>A
  • NM_207034.3:c.426G>AMANE SELECT
  • NP_001289384.1:p.Ala142=
  • NP_001289385.1:p.Ala142=
  • NP_996915.1:p.Ala142=
  • NP_996916.1:p.Ala142=
  • NP_996917.1:p.Ala142=
  • LRG_1381t1:c.426G>A
  • LRG_1381:g.25634G>A
  • LRG_1381p1:p.Ala142=
  • NC_000020.10:g.57896132G>A
  • NM_207034.1:c.426G>A
  • NM_207034.2:c.426G>A
  • p.Ala142Ala
Links:
dbSNP: rs187049336
NCBI 1000 Genomes Browser:
rs187049336
Molecular consequence:
  • NM_001302455.2:c.426G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001302456.2:c.426G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_207032.3:c.426G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_207033.3:c.426G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_207034.3:c.426G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
3

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000711314Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Benign
(Feb 16, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided33not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000711314.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)

Description

p.Ala142Ala in exon 3 of EDN3: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.9% (74/8652) of E ast Asian chromosomes and 0.2% (38/16512) of South Asian chromsomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNPdbSNP rs1870 49336).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided3not provided3not provided

Last Updated: Feb 20, 2024