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

Germline classification:: Likely benign (1 submission)
Last evaluated:: Feb 11, 2017
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:: RCV002323702.2

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_000118.4:c.321_322delGCinsTT
NM_001114753.3:c.321_322delinsTTMANE SELECT
NM_001278138.2:c.-226_-225delinsTT
NM_001406715.1:c.321_322delGCinsTT
NP_000109.1:p.His108Tyr
NP_000109.1:p.His108Tyr
NP_001108225.1:p.His108Tyr
NP_001108225.1:p.His108Tyr
NP_001393644.1:p.His108Tyr
LRG_589t1:c.321_322delinsTT
LRG_589t2: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_000118.3:c.321_322delinsTT
NM_001114753.1:c.321_322delGCinsTT
NM_001114753.1:c.321_322delinsTT
NM_001114753.2:c.321_322delGCinsTT
NM_001114753.2:c.321_322delinsTT

Protein change:

H108Y

Links:

dbSNP: rs1060501425

NCBI 1000 Genomes Browser:

rs1060501425

Molecular consequence:

NM_001278138.2:c.-226_-225delinsTT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000118.4:c.321_322delGCinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001114753.3:c.321_322delinsTT - missense variant - [Sequence Ontology: SO:0001583]
NM_001406715.1:c.321_322delGCinsTT - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002610349	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Feb 11, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002610349

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Feb 11, 2017)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function.

Mallet C, Lamribet K, Giraud S, Dupuis-Girod S, Feige JJ, Bailly S, Tillet E.

Hum Mol Genet. 2015 Feb 15;24(4):1142-54. doi: 10.1093/hmg/ddu531. Epub 2014 Oct 13.

PubMed [citation]

PMID:: 25312062

Details of each submission

From Ambry Genetics, SCV002610349.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

ClinVar

Relating variation to medicine