NM_000118.3(ENG):c.1273-5C>T AND not specified

Clinical significance:Benign (Last evaluated: Sep 19, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000506008.1

Allele description [Variation Report for NM_000118.3(ENG):c.1273-5C>T]

NM_000118.3(ENG):c.1273-5C>T

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.1273-5C>T
HGVS:
  • NC_000009.12:g.127819665G>A
  • NG_009551.1:g.40104C>T
  • NM_000118.3:c.1273-5C>T
  • NM_001114753.2:c.1273-5C>T
  • NM_001278138.1:c.727-5C>T
  • LRG_589t1:c.1273-5C>T
  • LRG_589t2:c.1273-5C>T
  • LRG_589:g.40104C>T
  • NC_000009.11:g.130581944G>A
Links:
dbSNP: rs779103881
NCBI 1000 Genomes Browser:
rs779103881
Molecular consequence:
  • NM_000118.3:c.1273-5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001114753.2:c.1273-5C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001278138.1:c.727-5C>T - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000603452ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Benign
(Sep 19, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV000603452.1

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

Last Updated: May 23, 2021

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