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NM_001114753.3(ENG):c.132_133del (p.Thr45fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 13, 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:
RCV001508637.7

Allele description [Variation Report for NM_001114753.3(ENG):c.132_133del (p.Thr45fs)]

NM_001114753.3(ENG):c.132_133del (p.Thr45fs)

Gene:
ENG:endoglin [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001114753.3(ENG):c.132_133del (p.Thr45fs)
HGVS:
  • NC_000009.12:g.127843181AT[1]
  • NG_009551.1:g.16586TA[1]
  • NM_000118.4:c.129_130AT[1]
  • NM_001114753.3:c.132_133delMANE SELECT
  • NM_001278138.2:c.-417TA[1]
  • NM_001406715.1:c.129_130AT[1]
  • NP_000109.1:p.Thr45Hisfs
  • NP_000109.1:p.Thr45fs
  • NP_001108225.1:p.Thr45Hisfs
  • NP_001108225.1:p.Thr45fs
  • NP_001393644.1:p.Thr45Hisfs
  • LRG_589t1:c.132_133del
  • LRG_589t2:c.129_130AT[1]
  • LRG_589:g.16586TA[1]
  • LRG_589p1:p.Thr45fs
  • LRG_589p2:p.Thr45Hisfs
  • NC_000009.11:g.130605459_130605460del
  • NC_000009.11:g.130605460AT[1]
  • NM_000118.3:c.132_133del
  • NM_001114753.2:c.129_130AT[1]
  • NM_001114753.2:c.132_133delTA
  • p.Thr45Hisfs*2
Protein change:
T45fs
Links:
dbSNP: rs2131918640
NCBI 1000 Genomes Browser:
rs2131918640
Molecular consequence:
  • NM_001278138.2:c.-417TA[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000118.4:c.129_130AT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001114753.3:c.132_133del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406715.1:c.129_130AT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

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
SCV001714916Mayo Clinic Laboratories, Mayo Clinic
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 13, 2020) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia.

Alaa El Din F, Patri S, Thoreau V, Rodriguez-Ballesteros M, Hamade E, Bailly S, Gilbert-Dussardier B, Abou Merhi R, Kitzis A.

PLoS One. 2015;10(7):e0132111. doi: 10.1371/journal.pone.0132111.

PubMed [citation]
PMID:
26176610
PMCID:
PMC4503601

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV001714916.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

PVS1, PS4_Moderate, PM2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024