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NM_016938.5(EFEMP2):c.834A>G (p.Thr278=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 16, 2019
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:
RCV002434690.2

Allele description [Variation Report for NM_016938.5(EFEMP2):c.834A>G (p.Thr278=)]

NM_016938.5(EFEMP2):c.834A>G (p.Thr278=)

Gene:
EFEMP2:EGF containing fibulin extracellular matrix protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.1
Genomic location:
Preferred name:
NM_016938.5(EFEMP2):c.834A>G (p.Thr278=)
HGVS:
  • NC_000011.10:g.65868523T>C
  • NG_012304.2:g.9412A>G
  • NG_053116.1:g.13462T>C
  • NM_016938.5:c.834A>GMANE SELECT
  • NP_058634.4:p.Thr278=
  • NC_000011.9:g.65635994T>C
  • NM_016938.4:c.834A>G
  • NR_037718.2:n.959A>G
Molecular consequence:
  • NR_037718.2:n.959A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_016938.5:c.834A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002678537Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jul 16, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002678537.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024