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NM_001114753.3(ENG):c.1096G>C (p.Asp366His) AND not provided

Germline classification:
Likely benign (3 submissions)
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001573276.4

Allele description [Variation Report for NM_001114753.3(ENG):c.1096G>C (p.Asp366His)]

NM_001114753.3(ENG):c.1096G>C (p.Asp366His)

Gene:
ENG:endoglin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001114753.3(ENG):c.1096G>C (p.Asp366His)
Other names:
p.D366H:GAC>CAC
HGVS:
  • NC_000009.12:g.127824342C>G
  • NG_009551.1:g.35427G>C
  • NM_000118.4:c.1096G>C
  • NM_001114753.3:c.1096G>CMANE SELECT
  • NM_001278138.2:c.550G>C
  • NM_001406715.1:c.1096G>C
  • NP_000109.1:p.Asp366His
  • NP_000109.1:p.Asp366His
  • NP_001108225.1:p.Asp366His
  • NP_001108225.1:p.Asp366His
  • NP_001265067.1:p.Asp184His
  • NP_001393644.1:p.Asp366His
  • LRG_589t1:c.1096G>C
  • LRG_589t2:c.1096G>C
  • LRG_589:g.35427G>C
  • LRG_589p1:p.Asp366His
  • LRG_589p2:p.Asp366His
  • NC_000009.11:g.130586621C>G
  • NM_000118.2:c.1096G>C
  • NM_000118.3:c.1096G>C
  • NM_001114753.1:c.1096G>C
  • NM_001114753.2:c.1096G>C
  • P17813:p.Asp366His
Protein change:
D184H
Links:
UniProtKB: P17813#VAR_014764; dbSNP: rs1800956
NCBI 1000 Genomes Browser:
rs1800956
Molecular consequence:
  • NM_000118.4:c.1096G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114753.3:c.1096G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278138.2:c.550G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406715.1:c.1096G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001798883Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus
no assertion criteria provided
Likely benigngermlineclinical testing

SCV001807361Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus
no assertion criteria provided
Likely benigngermlineclinical testing

SCV005227520Breakthrough Genomics, Breakthrough Genomics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely benigngermlinenot provided

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing, not provided

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 Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001798883.1

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

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV001807361.1

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

From Breakthrough Genomics, Breakthrough Genomics, SCV005227520.1

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

Last Updated: Sep 29, 2024