NM_001114753.3(ENG):c.1419C>G (p.Ser473Arg) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 7, 2021
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:: RCV001571156.5

Allele description [Variation Report for NM_001114753.3(ENG):c.1419C>G (p.Ser473Arg)]

NM_001114753.3(ENG):c.1419C>G (p.Ser473Arg)

Genes:

ENG:endoglin [Gene - OMIM - HGNC]
LOC102723566:uncharacterized LOC102723566 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_001114753.3(ENG):c.1419C>G (p.Ser473Arg)

HGVS:

NC_000009.12:g.127818725G>C
NG_009551.1:g.41044C>G
NM_000118.4:c.1419C>G
NM_001114753.3:c.1419C>GMANE SELECT
NM_001278138.2:c.873C>G
NP_000109.1:p.Ser473Arg
NP_000109.1:p.Ser473Arg
NP_001108225.1:p.Ser473Arg
NP_001108225.1:p.Ser473Arg
NP_001265067.1:p.Ser291Arg
LRG_589t1:c.1419C>G
LRG_589t2:c.1419C>G
LRG_589:g.41044C>G
LRG_589p1:p.Ser473Arg
LRG_589p2:p.Ser473Arg
NC_000009.11:g.130581004G>C
NM_000118.2:c.1419C>G
NM_000118.3:c.1419C>G
NM_001114753.2:c.1419C>G

Protein change:

S291R

Links:

dbSNP: rs561818608

NCBI 1000 Genomes Browser:

rs561818608

Molecular consequence:

NM_000118.4:c.1419C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001114753.3:c.1419C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001278138.2:c.873C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001795575	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Apr 7, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001795575

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Apr 7, 2021)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001795575.1

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

Description

Observed in one individual with pulmonary arterial hypertension (Graf et al., 2018); Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports a deleterious effect on splicing; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29650961)

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

Last Updated: Sep 29, 2024

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