NM_005560.6(LAMA5):c.4315G>A (p.Gly1439Ser) AND Nephrotic syndrome

Clinical significance:Likely pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001391140.1

Allele description [Variation Report for NM_005560.6(LAMA5):c.4315G>A (p.Gly1439Ser)]

NM_005560.6(LAMA5):c.4315G>A (p.Gly1439Ser)

Gene:
LAMA5:laminin subunit alpha 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.33
Genomic location:
Preferred name:
NM_005560.6(LAMA5):c.4315G>A (p.Gly1439Ser)
HGVS:
  • NC_000020.11:g.62328976C>T
  • NG_050626.1:g.43345G>A
  • NM_005560.6:c.4315G>AMANE SELECT
  • NP_005551.3:p.Gly1439Ser
  • NC_000020.10:g.60904032C>T
Protein change:
G1439S
Molecular consequence:
  • NM_005560.6:c.4315G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Nephrotic syndrome
Identifiers:
MONDO: MONDO:0005377; MedGen: C0027726; Human Phenotype Ontology: HP:0000100

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001593034Precision Medicine Center,Zhengzhou Universitycriteria provided, single submitter
Likely pathogenicgermlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

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 Precision Medicine Center,Zhengzhou University, SCV001593034.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)

Description

PM1:Located in well-established functional domain PP1:Cosegregation with disease in multiple affected family members PP3:Multiple lines of computational evidence support a deleterious effect on the gene or gene product PP4:Patient's phenotype is highly specific for a disease PP5:Reputable source recently reports variant as pathogenic

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

Last Updated: Oct 7, 2021

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