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NM_170707.4(LMNA):c.937-8C>A AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 20, 2023
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:
RCV001697242.10

Allele description [Variation Report for NM_170707.4(LMNA):c.937-8C>A]

NM_170707.4(LMNA):c.937-8C>A

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.937-8C>A
HGVS:
  • NC_000001.11:g.156135893C>A
  • NG_008692.2:g.58321C>A
  • NM_001257374.3:c.601-8C>A
  • NM_001282624.2:c.694-8C>A
  • NM_001282625.2:c.937-8C>A
  • NM_001282626.2:c.937-8C>A
  • NM_005572.4:c.937-8C>A
  • NM_170707.4:c.937-8C>AMANE SELECT
  • NM_170708.4:c.937-8C>A
  • LRG_254t1:c.937-8C>A
  • LRG_254t2:c.937-8C>A
  • LRG_254:g.58321C>A
  • NC_000001.10:g.156105684C>A
  • NM_005572.3:c.937-8C>A
  • NM_170707.2:c.937-8C>A
  • NM_170707.3:c.937-8C>A
Links:
dbSNP: rs751707982
NCBI 1000 Genomes Browser:
rs751707982
Molecular consequence:
  • NM_001257374.3:c.601-8C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282624.2:c.694-8C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282625.2:c.937-8C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001282626.2:c.937-8C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005572.4:c.937-8C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_170707.4:c.937-8C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_170708.4:c.937-8C>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000719798GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Uncertain significance
(Nov 20, 2023)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000719798.3

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

Description

Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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

Last Updated: Oct 26, 2024