NM_001105206.3(LAMA4):c.57_59dup (p.Ala20dup) AND Dilated cardiomyopathy 1JJ

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 25, 2022
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:: RCV001910002.4

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:: Dilated cardiomyopathy 1JJ (CMD1JJ)
Identifiers:: MONDO: MONDO:0014095; MedGen: C3808935; Orphanet: 154; OMIM: 615235

Recent activity

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Sequence 32748 from Patent EP2096177
Sequence 32748 from Patent EP2096177
gi|259474657|emb|HB900073.1||pat|EP 177|32748

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002186069	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 25, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002186069

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 25, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002186069.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant, c.57_59dup, results in the insertion of 1 amino acid(s) of the LAMA4 protein (p.Ala20dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with LAMA4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1408504). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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