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NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser) AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 1, 2020
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:
RCV002225526.3

Allele description [Variation Report for NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser)]

NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser)

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.1633G>A (p.Gly545Ser)
Other names:
NP_001108225.1:p.G545S
HGVS:
  • NC_000009.12:g.127818173C>T
  • NG_009551.1:g.41596G>A
  • NM_000118.4:c.1633G>A
  • NM_001114753.3:c.1633G>AMANE SELECT
  • NM_001278138.2:c.1087G>A
  • NP_000109.1:p.Gly545Ser
  • NP_000109.1:p.Gly545Ser
  • NP_001108225.1:p.Gly545Ser
  • NP_001108225.1:p.Gly545Ser
  • NP_001265067.1:p.Gly363Ser
  • LRG_589t1:c.1633G>A
  • LRG_589t2:c.1633G>A
  • LRG_589:g.41596G>A
  • LRG_589p1:p.Gly545Ser
  • LRG_589p2:p.Gly545Ser
  • NC_000009.11:g.130580452C>T
  • NM_000118.2:c.1633G>A
  • NM_000118.3:c.1633G>A
  • NM_001114753.1:c.1633G>A
  • NM_001114753.2:c.1633G>A
  • NP_001108225.1:p.G545S
  • P17813:p.Gly545Ser
Protein change:
G363S
Links:
UniProtKB: P17813#VAR_070302; dbSNP: rs142896669
NCBI 1000 Genomes Browser:
rs142896669
Molecular consequence:
  • NM_000118.4:c.1633G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114753.3:c.1633G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278138.2:c.1087G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002504123GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(Oct 1, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV002504123.2

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

Description

See Variant Classification Assertion Criteria.

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

Last Updated: May 1, 2024