NM_001105206.3(LAMA4):c.3054G>T (p.Leu1018Phe) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Sep 15, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000767116.3

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)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000250534GeneDxcriteria provided, single submitter
Uncertain significance
(Sep 15, 2015)
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, SCV000250534.14

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

Description

p.Leu1011Phe (TTG>TTT): c.3033 G>T in exon 23 of the LAMA4 gene (NM_002290.3).The Leu1011Phe variant in the LAMA4 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Although Leu1011Phe results in a conservative amino acid substitution of one non-polar amino acid for another, this substitution occurs at a position that is well conserved across species. In silico analysis predicts Leu1011Phe is damaging to the protein structure/function.The Leu1011Phe variant was observed at a low frequency in the 1000 genomes database (3/2100 alleles or 0.1%) and in dbSNP (3/13006 alleles or 0.02%). With the clinical and molecular information available at this time, we cannot definitively determine if Leu1011Phe is a disease-causing mutation or a rare benign variant.This variant was found in CARDIOMYOPATHY

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

Last Updated: Jul 7, 2021

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