NM_001105206.3(LAMA4):c.3054G>T (p.Leu1018Phe) AND Cardiomyopathy

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Mar 22, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000769198.2

Allele description [Variation Report for NM_001105206.3(LAMA4):c.3054G>T (p.Leu1018Phe)]

NM_001105206.3(LAMA4):c.3054G>T (p.Leu1018Phe)

Gene:
LAMA4:laminin subunit alpha 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q21
Genomic location:
Preferred name:
NM_001105206.3(LAMA4):c.3054G>T (p.Leu1018Phe)
Other names:
p.L1011F:TTG>TTT
HGVS:
  • NC_000006.12:g.112139808C>A
  • NG_008209.1:g.119819G>T
  • NM_001105206.3:c.3054G>TMANE SELECT
  • NM_001105207.3:c.3033G>T
  • NM_002290.5:c.3033G>T
  • NP_001098676.2:p.Leu1018Phe
  • NP_001098677.2:p.Leu1011Phe
  • NP_002281.3:p.Leu1011Phe
  • LRG_433t2:c.3033G>T
  • LRG_433:g.119819G>T
  • NC_000006.11:g.112461010C>A
  • NM_001105206.1:c.3054G>T
  • NM_001105206.2:c.3054G>T
  • NM_002290.3:c.3033G>T
  • NM_002290.4:c.3033G>T
Protein change:
L1011F
Links:
dbSNP: rs183262122
NCBI 1000 Genomes Browser:
rs183262122
Molecular consequence:
  • NM_001105206.3:c.3054G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001105207.3:c.3033G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002290.5:c.3033G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiomyopathy (CMYO)
Identifiers:
MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000900574CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario - Canadian Open Genetics Repositorycriteria provided, single submitter
Uncertain significance
(Mar 17, 2017)
germlineclinical testing

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

SCV000995757Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diegocriteria provided, single submitter
Likely benign
(Mar 22, 2018)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot 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 CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository, SCV000900574.1

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

From Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego, SCV000995757.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 7, 2021

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