NM_000118.3(ENG):c.392C>T (p.Pro131Leu) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Aug 18, 2016)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000178045.2

Allele description [Variation Report for NM_000118.3(ENG):c.392C>T (p.Pro131Leu)]

NM_000118.3(ENG):c.392C>T (p.Pro131Leu)

Gene:
ENG:endoglin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_000118.3(ENG):c.392C>T (p.Pro131Leu)
HGVS:
  • NC_000009.12:g.127826641G>A
  • NG_009551.1:g.33128C>T
  • NM_000118.3:c.392C>T
  • NM_001114753.2:c.392C>T
  • NM_001278138.1:c.-155C>T
  • NP_000109.1:p.Pro131Leu
  • NP_001108225.1:p.Pro131Leu
  • LRG_589t1:c.392C>T
  • LRG_589t2:c.392C>T
  • LRG_589:g.33128C>T
  • LRG_589p1:p.Pro131Leu
  • LRG_589p2:p.Pro131Leu
  • NC_000009.11:g.130588920G>A
  • NM_000118.2:c.392C>T
Protein change:
P131L
Links:
dbSNP: rs139398993
NCBI 1000 Genomes Browser:
rs139398993
Molecular consequence:
  • NM_001278138.1:c.-155C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000118.3:c.392C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114753.2:c.392C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

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
SCV000230031EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Feb 6, 2015)
germlineclinical testing

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

Citation Link,

SCV000594548Genetic Services Laboratory, University of Chicagocriteria provided, single submitter
Likely benign
(Aug 18, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown3not providednot providednot providednot providedclinical testing
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Abdalla SA, Letarte M.

J Med Genet. 2006 Feb;43(2):97-110. Epub 2005 May 6. Review.

PubMed [citation]
PMID:
15879500
PMCID:
PMC2603035

Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis.

McDonald J, Damjanovich K, Millson A, Wooderchak W, Chibuk JM, Stevenson DA, Gedge F, Bayrak-Toydemir P.

Clin Genet. 2011 Apr;79(4):335-44. doi: 10.1111/j.1399-0004.2010.01596.x. Epub 2010 Dec 16.

PubMed [citation]
PMID:
21158752
See all PubMed Citations (3)

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000230031.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

From Genetic Services Laboratory, University of Chicago, SCV000594548.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 23, 2021

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