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NM_001114753.3(ENG):c.1961C>G (p.Thr654Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 3, 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:
RCV000490183.3

Allele description [Variation Report for NM_001114753.3(ENG):c.1961C>G (p.Thr654Ser)]

NM_001114753.3(ENG):c.1961C>G (p.Thr654Ser)

Gene:
ENG:endoglin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001114753.3(ENG):c.1961C>G (p.Thr654Ser)
Other names:
NM_001114753.3(ENG):c.1961C>G; p.Thr654Ser
HGVS:
  • NC_000009.12:g.127815698G>C
  • NG_009551.1:g.44071C>G
  • NG_023245.1:g.17824G>C
  • NM_000118.4:c.*219C>G
  • NM_001114753.3:c.1961C>GMANE SELECT
  • NM_001278138.2:c.1415C>G
  • NP_001108225.1:p.Thr654Ser
  • NP_001108225.1:p.Thr654Ser
  • NP_001265067.1:p.Thr472Ser
  • LRG_589t1:c.*219C>G
  • LRG_589t2:c.1961C>G
  • LRG_589:g.44071C>G
  • LRG_589p2:p.Thr654Ser
  • NC_000009.11:g.130577977G>C
  • NM_000118.2:c.*219C>G
  • NM_000118.3:c.*219C>G
  • NM_001114753.2:c.1961C>G
Protein change:
T472S
Links:
dbSNP: rs1050077
NCBI 1000 Genomes Browser:
rs1050077
Molecular consequence:
  • NM_001114753.3:c.1961C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278138.2:c.1415C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000576482GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(May 3, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000576482.3

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

Description

A variant of uncertain significance has been identified in the ENG gene. The T654S variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). However, the T654S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to threonine are tolerated across species and where serine is the wild type in several species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Furthermore, the T654S variant occurs in an alternate transcript where no variants have been reported in the Human Gene Mutation Database in association with HHT or other ENG-related disorders (Stenson et al., 2014).

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

Last Updated: Apr 6, 2024