NM_001114753.3(ENG):c.321_322delinsTT (p.His108Tyr) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Apr 3, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000600129.1

Allele description [Variation Report for NM_001114753.3(ENG):c.321_322delinsTT (p.His108Tyr)]

NM_001114753.3(ENG):c.321_322delinsTT (p.His108Tyr)

Gene:
ENG:endoglin [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001114753.3(ENG):c.321_322delinsTT (p.His108Tyr)
HGVS:
  • NC_000009.12:g.127829725_127829726delinsAA
  • NG_009551.1:g.30043_30044delinsTT
  • NM_000118.3:c.321_322delinsTT
  • NM_001114753.3:c.321_322delinsTTMANE SELECT
  • NM_001278138.1:c.-226_-225delinsTT
  • NP_000109.1:p.His108Tyr
  • NP_001108225.1:p.His108Tyr
  • LRG_589t1:c.321_322delinsTT
  • LRG_589:g.30043_30044delinsTT
  • LRG_589p1:p.His108Tyr
  • NC_000009.11:g.130592004_130592005delinsAA
  • NM_000118.3:c.321_322delGCinsTT
  • NM_001114753.1:c.321_322delinsTT
Protein change:
H108Y
Links:
dbSNP: rs1060501425
NCBI 1000 Genomes Browser:
rs1060501425
Molecular consequence:
  • NM_000118.3:c.321_322delinsTT - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000713059Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Apr 3, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000713059.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Variant classified as Uncertain Significance - Favor Benign. The p.His108Tyr (c. 321_322delinsTT) variant in ENG results from a deletion and insertion of 2 conse cutive bases in cis and creates a missense change. This variant has been reporte d in 1 French individual with Hereditary Hemorrhagic Telangiectasia (HHT); howev er, this individual carried a second variant in ENG that was sufficient to expla in their disease (Mallet 2015). The p.His108Tyr variant has also been identified in 15/66242 European chromosomes by the Exome Aggregation Consortium (ExAC, htt p://exac.broadinstitute.org; dbSNP rs756897517). In vitro functional studies pro vide some evidence that this change may not impact protein function (Mallet 2015 ). However, these types of assays may not accurately represent biological functi on. In summary, while the clinical significance of the p.His108Tyr variant is un certain, these data suggest that it is more likely to be benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Jul 7, 2021

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