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NM_170707.4(LMNA):c.937-11C>G AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV000057486.1

Allele description [Variation Report for NM_170707.4(LMNA):c.937-11C>G]

NM_170707.4(LMNA):c.937-11C>G

Gene:
LMNA:lamin A/C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_170707.4(LMNA):c.937-11C>G
HGVS:
  • NC_000001.11:g.156135890C>G
  • NG_008692.2:g.58318C>G
  • NM_001257374.3:c.601-11C>G
  • NM_001282624.2:c.694-11C>G
  • NM_001282625.2:c.937-11C>G
  • NM_001282626.2:c.937-11C>G
  • NM_005572.4:c.937-11C>G
  • NM_170707.4:c.937-11C>GMANE SELECT
  • NM_170708.4:c.937-11C>G
  • LRG_254t2:c.937-11C>G
  • LRG_254:g.58318C>G
  • NC_000001.10:g.156105681C>G
  • NM_170707.2:c.937-11C>G
Links:
dbSNP: rs267607645
NCBI 1000 Genomes Browser:
rs267607645
Molecular consequence:
  • NM_001257374.3:c.601-11C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282624.2:c.694-11C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282625.2:c.937-11C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282626.2:c.937-11C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005572.4:c.937-11C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_170707.4:c.937-11C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_170708.4:c.937-11C>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000088600Epithelial Biology; Institute of Medical Biology, Singapore
no classification provided
not providednot providednot provided

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Epithelial Biology; Institute of Medical Biology, Singapore, SCV000088600.1

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

Last Updated: Sep 29, 2024