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NM_170707.4(LMNA):c.937-8C>A AND Primary dilated cardiomyopathy

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Dec 13, 2023
Review status:
criteria provided, conflicting classifications
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:
RCV000207998.11

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]
Observations:
7

Condition(s)

Name:
Primary dilated cardiomyopathy (DCM)
Synonyms:
Dilated Cardiomyopathy
Identifiers:
EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000264014Blueprint Genetics
criteria provided, single submitter

(Variant Classification)		Uncertain significance
(Jan 13, 2015) 		germlineclinical testing

Citation Link,

SCV004825605All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely Benign
(Dec 13, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknown6not providednot provided108544not providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Blueprint Genetics, SCV000264014.2

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

From All of Us Research Program, National Institutes of Health, SCV004825605.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided6not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided6not providednot providednot provided

Last Updated: Sep 16, 2024