NM_001105206.3(LAMA4):c.3054G>T (p.Leu1018Phe) AND Dilated cardiomyopathy 1JJ

Clinical significance:Likely benign (Last evaluated: Jul 8, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000225909.5

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]

Condition(s)

Name:
Dilated cardiomyopathy 1JJ (CMD1JJ)
Identifiers:
MONDO: MONDO:0014095; MedGen: C3808935; Orphanet: 154; OMIM: 615235

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000287328Invitaecriteria provided, single submitter
Likely benign
(Jul 8, 2020)
germlineclinical testing

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

SCV000734437Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensusno assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000287328.5

#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 Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV000734437.1

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

Last Updated: Jul 7, 2021

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