NM_000118.3(ENG):c.392C>T (p.Pro131Leu) AND Galloway-Mowat syndrome 1

Clinical significance:Benign

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001258238.1

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]

Condition(s)

Name:
Galloway-Mowat syndrome 1 (GAMOS1)
Synonyms:
Microcephaly, hiatal hernia and nephrotic syndrome; Microcephaly nephrosis syndrome; Nephrosis neuronal dysmigration syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0033005; MedGen: C4551772; Orphanet: 2065; Orphanet: 83472; OMIM: 251300

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001435144Broad Institute Rare Disease Group, Broad Institutecriteria provided, single submitter
Benigngermlineresearch

PubMed (6)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia.

Cymerman U, Vera S, Karabegovic A, Abdalla S, Letarte M.

Hum Mutat. 2003 May;21(5):482-92.

PubMed [citation]
PMID:
12673790

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
See all PubMed Citations (6)

Details of each submission

From Broad Institute Rare Disease Group, Broad Institute, SCV001435144.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (6)

Description

The heterozygous p.Pro131Leu variant in ENG has been identified in multiple individuals with haemorrhagic telangiectasia and individuals without haemorrhagic telangiectasia (PMID: 15879500, 21158752), and has been identified in >2% of South Asian chromosomes and 7 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for autosomal dominant haemorrhagic telangiectasia.

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

Last Updated: Sep 6, 2021

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