NM_006393.3(NEBL):c.2149-5G>A AND Cardiovascular phenotype

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 21, 2013
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:
RCV000617843.1

Allele description [Variation Report for NM_006393.3(NEBL):c.2149-5G>A]

NM_006393.3(NEBL):c.2149-5G>A

Gene:
NEBL:nebulette [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10p12.31
Genomic location:
Preferred name:
NM_006393.3(NEBL):c.2149-5G>A
HGVS:
  • NC_000010.11:g.20815722C>T
  • NG_017092.1:g.363466G>A
  • NM_001173484.2:c.358-2782G>A
  • NM_001377322.1:c.358-2782G>A
  • NM_001377323.1:c.310-2782G>A
  • NM_001377324.1:c.301-2782G>A
  • NM_001377325.1:c.292-2782G>A
  • NM_001377326.1:c.250-2782G>A
  • NM_001377327.1:c.250-2782G>A
  • NM_001377328.1:c.250-2782G>A
  • NM_006393.3:c.2149-5G>AMANE SELECT
  • NM_213569.2:c.358-2782G>A
  • LRG_411t1:c.358-2782G>A
  • LRG_411t2:c.2149-5G>A
  • LRG_411:g.363466G>A
  • NC_000010.10:g.21104651C>T
  • NM_001173484.1:c.358-2782G>A
  • NM_006393.2:c.2149-5G>A
Links:
dbSNP: rs71578956
NCBI 1000 Genomes Browser:
rs71578956
Molecular consequence:
  • NM_001173484.2:c.358-2782G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377322.1:c.358-2782G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377323.1:c.310-2782G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377324.1:c.301-2782G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377325.1:c.292-2782G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377326.1:c.250-2782G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377327.1:c.250-2782G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377328.1:c.250-2782G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_006393.3:c.2149-5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_213569.2:c.358-2782G>A - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000739872Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Benign
(Jan 21, 2013) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000739872.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: May 19, 2024