NM_001122659.3(EDNRB):c.913del (p.Ser305fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 20, 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:: RCV002828361.3

Allele description [Variation Report for NM_001122659.3(EDNRB):c.913del (p.Ser305fs)]

NM_001122659.3(EDNRB):c.913del (p.Ser305fs)

Genes:

EDNRB-AS1:EDNRB antisense RNA 1 [Gene - HGNC]
EDNRB:endothelin receptor type B [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

13q22.3

Genomic location:

Preferred name:

NM_001122659.3(EDNRB):c.913del (p.Ser305fs)

HGVS:

NC_000013.11:g.77901099del
NG_011630.3:g.78628del
NM_000115.5:c.913del
NM_001122659.3:c.913delMANE SELECT
NM_001201397.2:c.1180delA
NM_003991.4:c.913del
NP_000106.1:p.Ser305fs
NP_001116131.1:p.Ser305fs
NP_001188326.1:p.Ser395Valfs
NP_001188326.1:p.Ser395fs
NP_003982.1:p.Ser305fs
NC_000013.10:g.78475231del
NC_000013.10:g.78475234del
NM_001201397.1:c.1183del

Protein change:

S305fs

Molecular consequence:

NM_000115.5:c.913del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001122659.3:c.913del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001201397.2:c.1180delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003991.4:c.913del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003204330	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jul 20, 2022)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 8001159, 10528251, 20127975, 30394532, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003204330

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jul 20, 2022)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice.

Hosoda K, Hammer RE, Richardson JA, Baynash AG, Cheung JC, Giaid A, Yanagisawa M.

Cell. 1994 Dec 30;79(7):1267-76.

PubMed [citation]

PMID:: 8001159

Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease.

Syrris P, Carter ND, Patton MA.

Am J Med Genet. 1999 Nov 5;87(1):69-71.

PubMed [citation]

PMID:: 10528251

See all PubMed Citations (5)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003204330.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with EDNRB-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser305Valfs*7) in the EDNRB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EDNRB are known to be pathogenic (PMID: 8001159, 10528251, 20127975, 30394532).

#	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

Last Updated: Sep 29, 2024

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