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NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 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:
RCV002276212.15

Allele description

NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser)

Gene:
ENG:endoglin [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser)
HGVS:
  • NC_000009.12:g.127824316_127824317delinsGC
  • NG_009551.1:g.35452_35453delinsGC
  • NM_000118.4:c.1121_1122delAAinsGC
  • NM_001114753.3:c.1121_1122delinsGCMANE SELECT
  • NM_001278138.2:c.575_576delinsGC
  • NM_001406715.1:c.1121_1122delAAinsGC
  • NP_000109.1:p.Lys374Ser
  • NP_000109.1:p.Lys374Ser
  • NP_001108225.1:p.Lys374Ser
  • NP_001108225.1:p.Lys374Ser
  • NP_001265067.1:p.Lys192Ser
  • NP_001393644.1:p.Lys374Ser
  • LRG_589t1:c.1121_1122delinsGC
  • LRG_589t2:c.1121_1122delAAinsGC
  • LRG_589:g.35452_35453delinsGC
  • LRG_589p1:p.Lys374Ser
  • LRG_589p2:p.Lys374Ser
  • NC_000009.11:g.130586595_130586596delinsGC
  • NM_000118.3:c.1121_1122delinsGC
  • NM_001114753.1:c.1121_1122delAAinsGC
  • NM_001114753.2:c.1121_1122delAAinsGC
Protein change:
K192S
Links:
dbSNP: rs2131885751
NCBI 1000 Genomes Browser:
rs2131885751
Molecular consequence:
  • NM_000118.4:c.1121_1122delAAinsGC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114753.3:c.1121_1122delinsGC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278138.2:c.575_576delinsGC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406715.1:c.1121_1122delAAinsGC - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002564069CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Pathogenic
(Apr 1, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV002564069.15

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Oct 8, 2024