NM_000118.3(ENG):c.1510G>A (p.Val504Met) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Jul 21, 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:
RCV000246668.4

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]
Observations:
2

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
SCV000302337PreventionGenetics,PreventionGeneticscriteria provided, single submitter
Likely benigngermlineclinical testing

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

SCV000331430EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Jul 21, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics,PreventionGenetics, SCV000302337.1

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

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000331430.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Sep 12, 2021

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