NM_198129.4(LAMA3):c.7075C>T (p.Gln2359Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jan 23, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000760904.1

Allele description [Variation Report for NM_198129.4(LAMA3):c.7075C>T (p.Gln2359Ter)]

NM_198129.4(LAMA3):c.7075C>T (p.Gln2359Ter)

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.7075C>T (p.Gln2359Ter)
HGVS:
  • NC_000018.10:g.23909212C>T
  • NG_007853.2:g.224615C>T
  • NM_000227.6:c.2248C>T
  • NM_001127717.4:c.6907C>T
  • NM_001127718.4:c.2080C>T
  • NM_198129.4:c.7075C>TMANE SELECT
  • NP_000218.3:p.Gln750Ter
  • NP_001121189.2:p.Gln2303Ter
  • NP_001121190.2:p.Gln694Ter
  • NP_937762.2:p.Gln2359Ter
  • NC_000018.9:g.21489176C>T
  • NM_000227.3:c.2248C>T
Protein change:
Q2303*
Links:
dbSNP: rs1555735252
NCBI 1000 Genomes Browser:
rs1555735252
Molecular consequence:
  • NM_000227.6:c.2248C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001127717.4:c.6907C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001127718.4:c.2080C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_198129.4:c.7075C>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
SCV000890800GeneDxcriteria provided, single submitter
Pathogenic
(Jan 23, 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, SCV000890800.1

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

Description

The Q750X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed in large population cohorts (Lek et al., 2016). It is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We interpret this variant as pathogenic.

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

Last Updated: Nov 27, 2021

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