NM_198129.4(LAMA3):c.8941C>T (p.Gln2981Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Feb 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000520973.3

Allele description [Variation Report for NM_198129.4(LAMA3):c.8941C>T (p.Gln2981Ter)]

NM_198129.4(LAMA3):c.8941C>T (p.Gln2981Ter)

Gene:
LAMA3:laminin subunit alpha 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q11.2
Genomic location:
Preferred name:
NM_198129.4(LAMA3):c.8941C>T (p.Gln2981Ter)
HGVS:
  • NC_000018.10:g.23939301C>T
  • NG_007853.2:g.254704C>T
  • NM_000227.6:c.4114C>T
  • NM_001127717.4:c.8773C>T
  • NM_001127718.4:c.3946C>T
  • NM_198129.4:c.8941C>TMANE SELECT
  • NP_000218.3:p.Gln1372Ter
  • NP_001121189.2:p.Gln2925Ter
  • NP_001121190.2:p.Gln1316Ter
  • NP_937762.2:p.Gln2981Ter
  • NC_000018.9:g.21519265C>T
  • NM_000227.3:c.4114C>T
Protein change:
Q1316*
Links:
dbSNP: rs772038362
NCBI 1000 Genomes Browser:
rs772038362
Molecular consequence:
  • NM_000227.6:c.4114C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001127717.4:c.8773C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001127718.4:c.3946C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_198129.4:c.8941C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000616762GeneDxcriteria provided, single submitter
Pathogenic
(Feb 28, 2019)
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, SCV000616762.3

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

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Oct 25, 2021

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