NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) AND not specified

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Apr 25, 2016
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000243657.10

Allele description [Variation Report for NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu)]

NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu)

Gene:

ENG:endoglin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu)

Other names:

NM_000118.3(ENG):c.1844C>T(p.Ser615Leu); NM_001114753.2(ENG):c.1844C>T(p.Ser615Leu); NM_001278138.1(ENG):c.1298C>T(p.Ser433Leu); NM_001114753.3(ENG):c.1844C>T

HGVS:

NC_000009.12:g.127815951G>A
NG_009551.1:g.43818C>T
NG_023245.1:g.18077G>A
NM_000118.4:c.1844C>T
NM_001114753.3:c.1844C>TMANE SELECT
NM_001278138.2:c.1298C>T
NP_000109.1:p.Ser615Leu
NP_000109.1:p.Ser615Leu
NP_001108225.1:p.Ser615Leu
NP_001108225.1:p.Ser615Leu
NP_001265067.1:p.Ser433Leu
LRG_589t1:c.1844C>T
LRG_589t2:c.1844C>T
LRG_589:g.43818C>T
LRG_589p1:p.Ser615Leu
LRG_589p2:p.Ser615Leu
NC_000009.11:g.130578230G>A
NM_000118.2:c.1844C>T
NM_000118.3:c.1844C>T
NM_001114753.1:c.1844C>T
NM_001114753.2:c.1844C>T
P17813:p.Ser615Leu

Protein change:

S433L

Links:

UniProtKB: P17813#VAR_026783; dbSNP: rs148002300

NCBI 1000 Genomes Browser:

rs148002300

Molecular consequence:

NM_000118.4:c.1844C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001114753.3:c.1844C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001278138.2:c.1298C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000302339	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000539097	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely benign (Apr 25, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000302339

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign

germline

clinical testing

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

SCV000539097

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely benign
(Apr 25, 2016)

germline

clinical testing

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

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

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

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 PreventionGenetics, part of Exact Sciences, SCV000302339.1

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

#	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

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000539097.1

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

Description

Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 0.4% (108/26946) European chromosomes

#	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: Oct 20, 2024

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