NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Jun 23, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000403112.2

Allele description [Variation Report for NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys)]

NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys)

Genes:
ENG:endoglin [Gene - OMIM - HGNC]
LOC102723566:uncharacterized LOC102723566 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys)
HGVS:
  • NC_000009.12:g.127817179G>A
  • NG_009551.1:g.42590C>T
  • NM_000118.3:c.1711C>T
  • NM_001114753.3:c.1711C>TMANE SELECT
  • NM_001278138.1:c.1165C>T
  • NP_000109.1:p.Arg571Cys
  • NP_001108225.1:p.Arg571Cys
  • NP_001265067.1:p.Arg389Cys
  • LRG_589t1:c.1711C>T
  • LRG_589:g.42590C>T
  • LRG_589p1:p.Arg571Cys
  • NC_000009.11:g.130579458G>A
  • NM_001114753.1:c.1711C>T
  • NR_136302.1:n.1114G>A
Protein change:
R389C
Links:
dbSNP: rs764262721
NCBI 1000 Genomes Browser:
rs764262721
Molecular consequence:
  • NM_000118.3:c.1711C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114753.3:c.1711C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278138.1:c.1165C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_136302.1:n.1114G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000539101Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Jun 23, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot 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, Partners HealthCare Personalized Medicine, SCV000539101.1

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

Description

Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Variant reported in 1 proband with juvenile polyposis

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

Last Updated: Jul 7, 2021

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