NM_207034.3(EDN3):c.670G>A (p.Ala224Thr) AND not specified

Germline classification:: Likely benign (3 submissions)
Last evaluated:: Aug 11, 2017
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000214032.12

Allele description [Variation Report for NM_207034.3(EDN3):c.670G>A (p.Ala224Thr)]

NM_207034.3(EDN3):c.670G>A (p.Ala224Thr)

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.670G>A (p.Ala224Thr)

HGVS:

NC_000020.11:g.59324412G>A
NG_008050.1:g.28969G>A
NM_001302455.2:c.*77G>A
NM_001302456.2:c.*45G>A
NM_207032.3:c.*45G>A
NM_207033.3:c.628G>A
NM_207034.3:c.670G>AMANE SELECT
NP_996916.1:p.Ala210Thr
NP_996917.1:p.Ala224Thr
LRG_1381t1:c.670G>A
LRG_1381:g.28969G>A
LRG_1381p1:p.Ala224Thr
NC_000020.10:g.57899467G>A
NM_207033.1:c.628G>A
NM_207034.1:c.670G>A
NM_207034.2:c.670G>A
P14138:p.Ala224Thr

Protein change:

A210T; ALA224THR

Links:

UniProtKB: P14138#VAR_009079; OMIM: 131242.0005; dbSNP: rs11570351

NCBI 1000 Genomes Browser:

rs11570351

Molecular consequence:

NM_001302455.2:c.*77G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001302456.2:c.*45G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_207032.3:c.*45G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_207033.3:c.628G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_207034.3:c.670G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000270180	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely benign (Oct 7, 2015)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 9587491, 24033266
SCV000302320	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000854888	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Likely benign (Aug 11, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000270180

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely benign
(Oct 7, 2015)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV000302320

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign

germline

clinical testing

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

SCV000854888

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Likely benign
(Aug 11, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	3	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

[Mutations of the endothelin-3 gene in isolated and syndromic forms of Hirschsprung disease].

Bidaud C, Salomon R, Edery P, Van Camp G, Pelet A, Bonduelle M, Nihoul-Fékété C, Willems PJ, Munnich A, Lyonnet S.

Gastroenterol Clin Biol. 1997;21(8-9):548-54. French.

PubMed [citation]

PMID:: 9587491

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

See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000270180.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

Description

p.Ala210Thr in exon 4 of EDN3: This variant is not expected to have clinical sig nificance because it has been identified in 0.5% (49/10242) of African chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; rs 11570351).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		1	not provided	1	not provided

From PreventionGenetics, part of Exact Sciences, SCV000302320.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Eurofins Ntd Llc (ga), SCV000854888.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		3	not provided	not provided	not provided

Last Updated: Mar 10, 2024

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