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NM_170707.4(LMNA):c.378C>G (p.Asp126Glu) AND Primary familial hypertrophic cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 27, 2015
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:
RCV000208154.1

Allele description [Variation Report for NM_170707.4(LMNA):c.378C>G (p.Asp126Glu)]

NM_170707.4(LMNA):c.378C>G (p.Asp126Glu)

Genes:
LOC126805877:MED14-independent group 3 enhancer GRCh37_chr1:156099693-156100892 [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.378C>G (p.Asp126Glu)
HGVS:
  • NC_000001.11:g.156130638C>G
  • NG_008692.2:g.53066C>G
  • NM_001257374.3:c.42C>G
  • NM_001282624.2:c.135C>G
  • NM_001282625.2:c.378C>G
  • NM_001282626.2:c.378C>G
  • NM_005572.4:c.378C>G
  • NM_170707.4:c.378C>GMANE SELECT
  • NM_170708.4:c.378C>G
  • NP_001244303.1:p.Asp14Glu
  • NP_001269553.1:p.Asp45Glu
  • NP_001269554.1:p.Asp126Glu
  • NP_001269555.1:p.Asp126Glu
  • NP_005563.1:p.Asp126Glu
  • NP_733821.1:p.Asp126Glu
  • NP_733822.1:p.Asp126Glu
  • LRG_254:g.53066C>G
  • NC_000001.10:g.156100429C>G
  • NM_170707.3:c.378C>G
Protein change:
D126E
Links:
dbSNP: rs869025456
NCBI 1000 Genomes Browser:
rs869025456
Molecular consequence:
  • NM_001257374.3:c.42C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282624.2:c.135C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282625.2:c.378C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282626.2:c.378C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005572.4:c.378C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170707.4:c.378C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170708.4:c.378C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Primary familial hypertrophic cardiomyopathy (HCM)
Synonyms:
Hereditary ventricular hypertrophy; Idiopathic hypertrophic subaortic stenosis
Identifiers:
MONDO: MONDO:0024573; MeSH: D024741; MedGen: C0949658; OMIM: PS192600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000264006Blueprint Genetics
criteria provided, single submitter

(Variant Classification)		Uncertain significance
(Feb 27, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Blueprint Genetics, SCV000264006.2

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

Last Updated: Mar 26, 2023