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NM_001122659.3(EDNRB):c.211_223del (p.Val71fs) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 3, 2018
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:
RCV000627620.1

Allele description [Variation Report for NM_001122659.3(EDNRB):c.211_223del (p.Val71fs)]

NM_001122659.3(EDNRB):c.211_223del (p.Val71fs)

Gene:
EDNRB:endothelin receptor type B [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q22.3
Genomic location:
Preferred name:
NM_001122659.3(EDNRB):c.211_223del (p.Val71fs)
HGVS:
  • NC_000013.11:g.77918355_77918367del
  • NG_011630.3:g.61361_61373del
  • NM_000115.5:c.211_223del
  • NM_001122659.3:c.211_223delMANE SELECT
  • NM_001201397.2:c.477_489delGGAGGTGCCTAAA
  • NM_003991.4:c.211_223del
  • NP_000106.1:p.Val71fs
  • NP_001116131.1:p.Val71fs
  • NP_001188326.1:p.Val161Thrfs
  • NP_001188326.1:p.Val161fs
  • NP_003982.1:p.Val71fs
  • NC_000013.10:g.78492490_78492502del
  • NM_000115.3:c.211_223delGTGCCTAAAGGAG
  • NM_001201397.1:c.481_493del
Protein change:
V161fs
Links:
dbSNP: rs1555292048
NCBI 1000 Genomes Browser:
rs1555292048
Molecular consequence:
  • NM_000115.5:c.211_223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001122659.3:c.211_223del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001201397.2:c.477_489delGGAGGTGCCTAAA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003991.4:c.211_223del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000748620GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(May 3, 2018) 		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, SCV000748620.3

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

Description

The c.211_223del13 variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed in large population cohorts (Lek et al., 2016). It causes a frameshift starting with codon Valine 71, changes this amino acid to a Threonine residue and creates a premature Stop codon at position 49 of the new reading frame, denoted p.Val71ThrfsX49. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In summary, we consider this variant to be likely pathogenic.

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

Last Updated: Dec 30, 2023