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NM_006393.3(NEBL):c.82-4A>G AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 14, 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:
RCV000619343.2

Allele description [Variation Report for NM_006393.3(NEBL):c.82-4A>G]

NM_006393.3(NEBL):c.82-4A>G

Gene:
NEBL:nebulette [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10p12.31
Genomic location:
Preferred name:
NM_006393.3(NEBL):c.82-4A>G
HGVS:
  • NC_000010.11:g.20897033T>C
  • NG_017092.1:g.282155A>G
  • NM_001173484.2:c.357+64639A>G
  • NM_001377322.1:c.357+64639A>G
  • NM_001377323.1:c.309+64639A>G
  • NM_001377324.1:c.300+64639A>G
  • NM_001377325.1:c.291+64639A>G
  • NM_001377326.1:c.249+64639A>G
  • NM_001377327.1:c.249+64639A>G
  • NM_001377328.1:c.249+64639A>G
  • NM_006393.3:c.82-4A>GMANE SELECT
  • NM_213569.2:c.357+64639A>G
  • LRG_411t1:c.357+64639A>G
  • LRG_411t2:c.82-4A>G
  • LRG_411:g.282155A>G
  • NC_000010.10:g.21185962T>C
  • NM_006393.2:c.82-4A>G
Links:
dbSNP: rs368268112
NCBI 1000 Genomes Browser:
rs368268112
Molecular consequence:
  • NM_001173484.2:c.357+64639A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377322.1:c.357+64639A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377323.1:c.309+64639A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377324.1:c.300+64639A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377325.1:c.291+64639A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377326.1:c.249+64639A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377327.1:c.249+64639A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001377328.1:c.249+64639A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_006393.3:c.82-4A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_213569.2:c.357+64639A>G - 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
SCV000739893Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Uncertain significance
(Nov 14, 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, SCV000739893.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.82-4A>G variant is located in the NEBL gene. This alteration results from an A to G substitution 4 nucleotides before coding exon 2. ​Based on data from the NHLBI Exome Sequencing Project (ESP), the G-allele has an overall frequency of approximately 0.05% (6/13006),havingnot been observed in 4406 of African American alleles, but observed in 0.07% (6/8600) of European American alleles. This variant was not found in the following population databases: dbSNP database or the 1000 Genomes Project.This nucleotide position is poorly conserved in available vertebrate species.Using the BDGP and ESEfinder splice site prediction tools, this alteration does not have any significant effect on the native acceptor splice site; however, direct evidence is unavailable.Since supporting evidence is limited at this time, the clinical significance ofc.82-4A>Gremains unclear.

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

Last Updated: Sep 29, 2024