NM_001164508.2(NEB):c.12018+1G>A AND not provided

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Dec 24, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000254952.3

Allele description [Variation Report for NM_001164508.2(NEB):c.12018+1G>A]

NM_001164508.2(NEB):c.12018+1G>A

Gene:
NEB:nebulin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q23.3
Genomic location:
Preferred name:
NM_001164508.2(NEB):c.12018+1G>A
HGVS:
  • NC_000002.12:g.151610515C>T
  • NG_009382.2:g.128973G>A
  • NM_001164507.2:c.12018+1G>A
  • NM_001164508.2:c.12018+1G>AMANE SELECT
  • NM_001271208.2:c.12018+1G>A
  • NM_004543.5:c.11289+1G>A
  • LRG_202t1:c.12018+1G>A
  • LRG_202:g.128973G>A
  • NC_000002.11:g.152467029C>T
  • NM_001271208.1:c.12018+1G>A
Links:
dbSNP: rs762278237
NCBI 1000 Genomes Browser:
rs762278237
Molecular consequence:
  • NM_001164507.2:c.12018+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001164508.2:c.12018+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001271208.2:c.12018+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004543.5:c.11289+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000322455GeneDxcriteria provided, single submitter
Likely pathogenic
(Dec 24, 2019)
germlineclinical testing

Citation Link,

SCV000704802EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Dec 21, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000322455.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Canonical splice site variant predicted to result in an in-frame deletion of a critical region; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Deletions involving coding exons in this gene are frequently reported as pathogenic, regardless of frame prediction (Stenson et al., 2014); The c.12018+1 G>A variant has been reported previously in the presence of a second NEB variant, in two unrelated individual with nemaline myopathy, however, no other phenotypic or family information was available (Lehtokari et al., 2014); This variant is associated with the following publications: (PMID: 25205138, 31589614)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000704802.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 30, 2021

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