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NM_001114753.3(ENG):c.1686+124G>T AND not provided

Germline classification:
Benign (2 submissions)
Last evaluated:
Sep 22, 2018
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV001675283.5

Allele description [Variation Report for NM_001114753.3(ENG):c.1686+124G>T]

NM_001114753.3(ENG):c.1686+124G>T

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.1686+124G>T
HGVS:
  • NC_000009.12:g.127817996C>A
  • NG_009551.1:g.41773G>T
  • NM_000118.4:c.1686+124G>T
  • NM_001114753.3:c.1686+124G>TMANE SELECT
  • NM_001278138.2:c.1140+124G>T
  • LRG_589:g.41773G>T
  • NC_000009.11:g.130580275C>A
...more
Links:
dbSNP: rs41512648
NCBI 1000 Genomes Browser:
rs41512648
Molecular consequence:
  • NM_000118.4:c.1686+124G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001114753.3:c.1686+124G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001278138.2:c.1140+124G>T - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001893822GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Benign
(Sep 22, 2018)
germlineclinical testing

Citation Link,

SCV005321896Breakthrough Genomics, Breakthrough Genomics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benigngermlinenot provided

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

Last Updated: Sep 29, 2024

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