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

Clinical significance:Benign (Last evaluated: Jun 6, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000197877.4

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)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000710910Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(Jun 6, 2018)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000710910.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

p.Leu1011Phe in exon 23 of LAMA4: This variant is not expected to have clinical significance because it has been identified in 0.24% (61/25790) of Finnish chrom osomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute. org; dbSNP rs183262122). ACMG/AMP Criteria applied: BA1.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Jul 7, 2021

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