NM_000118.3(ENG):c.1510G>A (p.Val504Met) AND Haemorrhagic telangiectasia 1

Clinical significance:Uncertain significance (Last evaluated: Jun 1, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000148485.1

Allele description [Variation Report for NM_000118.3(ENG):c.1510G>A (p.Val504Met)]

NM_000118.3(ENG):c.1510G>A (p.Val504Met)

Genes:
ENG:endoglin [Gene - OMIM - HGNC]
LOC102723566:uncharacterized LOC102723566 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_000118.3(ENG):c.1510G>A (p.Val504Met)
HGVS:
  • NC_000009.12:g.127818296C>T
  • NG_009551.1:g.41473G>A
  • NM_000118.3:c.1510G>A
  • NM_001114753.2:c.1510G>A
  • NM_001278138.1:c.964G>A
  • NP_000109.1:p.Val504Met
  • NP_001108225.1:p.Val504Met
  • NP_001265067.1:p.Val322Met
  • LRG_589t1:c.1510G>A
  • LRG_589t2:c.1510G>A
  • LRG_589:g.41473G>A
  • LRG_589p1:p.Val504Met
  • LRG_589p2:p.Val504Met
  • NC_000009.11:g.130580575C>T
  • NM_000118.2:c.1510G>A
  • P17813:p.Val504Met
Protein change:
V322M
Links:
UniProtKB: P17813#VAR_026782; dbSNP: rs116330805
NCBI 1000 Genomes Browser:
rs116330805
Molecular consequence:
  • NM_000118.3:c.1510G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114753.2:c.1510G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278138.1:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Haemorrhagic telangiectasia 1
Identifiers:
MedGen: CN221549

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000190188CSER _CC_NCGL, University of Washington - ESP 6500 variant annotationno assertion criteria providedUncertain significance
(Jun 1, 2014)
germlineresearch

Description

Variants classified for the Actionable exomic incidental findings in 6503 participants: challenges of variant classification manuscript

SCV000190188

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Details of each submission

From CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation, SCV000190188.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 12, 2021

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