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NM_001105206.3(LAMA4):c.57_59dup (p.Ala20dup) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 13, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003167124.2

Allele description [Variation Report for NM_001105206.3(LAMA4):c.57_59dup (p.Ala20dup)]

NM_001105206.3(LAMA4):c.57_59dup (p.Ala20dup)

Genes:
LAMA4-AS1:LAMA4 antisense RNA 1 [Gene - HGNC]
LAMA4:laminin subunit alpha 4 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
6q21
Genomic location:
Preferred name:
NM_001105206.3(LAMA4):c.57_59dup (p.Ala20dup)
HGVS:
  • NC_000006.12:g.112254094_112254096dup
  • NG_008209.1:g.5533_5535dup
  • NM_001105206.3:c.57_59dupMANE SELECT
  • NM_001105207.3:c.57_59dup
  • NM_001105208.3:c.57_59dup
  • NM_001105209.3:c.57_59dup
  • NM_002290.3:c.57_59dupTGC
  • NM_002290.5:c.57_59dup
  • NP_001098676.2:p.Ala20dup
  • NP_001098677.2:p.Ala20dup
  • NP_001098678.1:p.Ala20dup
  • NP_001098679.1:p.Ala20dup
  • NP_002281.3:p.Ala20dup
  • LRG_433t2:c.57_59dup
  • LRG_433:g.5533_5535dup
  • NC_000006.11:g.112575293_112575294insGCA
  • NC_000006.11:g.112575296_112575298dup
Links:
dbSNP: rs1284404549
NCBI 1000 Genomes Browser:
rs1284404549
Molecular consequence:
  • NM_001105206.3:c.57_59dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001105207.3:c.57_59dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001105208.3:c.57_59dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001105209.3:c.57_59dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_002290.5:c.57_59dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003858553Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 13, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003858553.2

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

Description

The c.57_59dupTGC variant (also known as p.A20dup), located in coding exon 1 of the LAMA4 gene, results from an in-frame duplication of TGC at nucleotide positions 57 to 59. This results in the duplication of an extra residue between codons 20 and 21. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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

Last Updated: Sep 29, 2024