NM_001164508.2(NEB):c.24208-7C>T AND not provided

Clinical significance:Likely benign

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001573799.1

Allele description [Variation Report for NM_001164508.2(NEB):c.24208-7C>T]

NM_001164508.2(NEB):c.24208-7C>T

Genes:
NEB:nebulin [Gene - OMIM - HGNC]
RIF1:replication timing regulatory factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q23.3
Genomic location:
Preferred name:
NM_001164508.2(NEB):c.24208-7C>T
HGVS:
  • NC_000002.12:g.151497725G>A
  • NG_009382.2:g.241763C>T
  • NM_001164507.2:c.24208-7C>T
  • NM_001164508.2:c.24208-7C>TMANE SELECT
  • NM_001271208.2:c.24313-7C>T
  • NM_004543.5:c.18826-1357C>T
  • LRG_202t1:c.24313-7C>T
  • LRG_202:g.241763C>T
  • NC_000002.11:g.152354239G>A
  • NM_001271208.1:c.24313-7C>T
Links:
dbSNP: rs113048349
NCBI 1000 Genomes Browser:
rs113048349
Molecular consequence:
  • NM_001164507.2:c.24208-7C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001164508.2:c.24208-7C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001271208.2:c.24313-7C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004543.5:c.18826-1357C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001800180Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensusno assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001800180.1

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

Last Updated: Nov 27, 2021

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