NM_001114753.3(ENG):c.207G>A (p.Leu69=) AND Hereditary hemorrhagic telangiectasia

Germline classification:
Benign (1 submission)
Last evaluated:
Feb 1, 2024
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:
RCV001517824.8

Allele description [Variation Report for NM_001114753.3(ENG):c.207G>A (p.Leu69=)]

NM_001114753.3(ENG):c.207G>A (p.Leu69=)

Gene:
ENG:endoglin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001114753.3(ENG):c.207G>A (p.Leu69=)
Other names:
p.L69L:CTG>CTA
HGVS:
  • NC_000009.12:g.127843106C>T
  • NG_009551.1:g.16663G>A
  • NM_000118.4:c.207G>A
  • NM_001114753.3:c.207G>AMANE SELECT
  • NM_001278138.2:c.-340G>A
  • NM_001406715.1:c.207G>A
  • NP_000109.1:p.Leu69=
  • NP_000109.1:p.Leu69=
  • NP_001108225.1:p.Leu69=
  • NP_001108225.1:p.Leu69=
  • NP_001393644.1:p.Leu69=
  • LRG_589t1:c.207G>A
  • LRG_589t2:c.207G>A
  • LRG_589:g.16663G>A
  • LRG_589p1:p.Leu69=
  • LRG_589p2:p.Leu69=
  • NC_000009.11:g.130605385C>T
  • NM_000118.2:c.207G>A
  • NM_000118.3:c.207G>A
  • NM_001114753.1:c.207G>A
  • NM_001114753.2:c.207G>A
  • NM_001278138.1:c.-340G>A
  • p.Leu69Leu
Links:
dbSNP: rs11545664
NCBI 1000 Genomes Browser:
rs11545664
Molecular consequence:
  • NM_001278138.2:c.-340G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000118.4:c.207G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001114753.3:c.207G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406715.1:c.207G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Hereditary hemorrhagic telangiectasia (HHT)
Synonyms:
ORW DISEASE; Osler Weber Rendu syndrome; OSLER-RENDU-WEBER DISEASE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0019180; MedGen: C0039445; OMIM: PS187300

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001726403Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Benign
(Feb 1, 2024) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001726403.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 13, 2025