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NM_004393.6(DAG1):c.479_482dup (p.His161fs) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 17, 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:
RCV002857147.2

Allele description

NM_004393.6(DAG1):c.479_482dup (p.His161fs)

Gene:
DAG1:dystroglycan 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_004393.6(DAG1):c.479_482dup (p.His161fs)
HGVS:
  • NC_000003.12:g.49530990_49530993dup
  • NG_013230.4:g.65859_65862dup
  • NM_001165928.4:c.479_482dup
  • NM_001177634.3:c.479_482dup
  • NM_001177635.3:c.479_482dup
  • NM_001177636.3:c.479_482dup
  • NM_001177637.3:c.479_482dup
  • NM_001177638.3:c.479_482dup
  • NM_001177639.3:c.479_482dup
  • NM_001177640.3:c.479_482dup
  • NM_001177641.3:c.479_482dup
  • NM_001177642.3:c.479_482dup
  • NM_001177643.3:c.479_482dup
  • NM_001177644.3:c.479_482dup
  • NM_004393.6:c.479_482dupMANE SELECT
  • NP_001159400.3:p.His161fs
  • NP_001171105.2:p.His161fs
  • NP_001171106.2:p.His161fs
  • NP_001171107.2:p.His161fs
  • NP_001171108.2:p.His161fs
  • NP_001171109.2:p.His161fs
  • NP_001171110.2:p.His161fs
  • NP_001171111.2:p.His161fs
  • NP_001171112.2:p.His161fs
  • NP_001171113.2:p.His161fs
  • NP_001171114.2:p.His161fs
  • NP_001171115.2:p.His161fs
  • NP_004384.5:p.His161fs
  • LRG_854t1:c.479_482dup
  • LRG_854t2:c.479_482dup
  • LRG_854:g.65859_65862dup
  • LRG_854p1:p.His161fs
  • LRG_854p2:p.His161fs
  • NC_000003.11:g.49568422_49568423insACCA
  • NC_000003.11:g.49568423_49568426dup
Protein change:
H161fs
Molecular consequence:
  • NM_001165928.4:c.479_482dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001177634.3:c.479_482dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001177635.3:c.479_482dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001177636.3:c.479_482dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001177637.3:c.479_482dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001177638.3:c.479_482dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001177639.3:c.479_482dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001177640.3:c.479_482dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001177641.3:c.479_482dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001177642.3:c.479_482dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001177643.3:c.479_482dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001177644.3:c.479_482dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004393.6:c.479_482dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Autosomal recessive limb-girdle muscular dystrophy type 2P
Synonyms:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, DAG1-RELATED; Limb-girdle muscular dystrophy-dystroglycanopathy, type C9; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2P; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0013440; MedGen: C4511963; Orphanet: 280333; OMIM: 613818
Name:
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Synonyms:
WALKER-WARBURG SYNDROME OR MUSCLE-EYE BRAIN DISEASE, DAG1-RELATED; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9
Identifiers:
MONDO: MONDO:0014683; MedGen: C4225291; Orphanet: 370997; Orphanet: 899; OMIM: 616538

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003222138Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jul 17, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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 Invitae, SCV003222138.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with DAG1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.His161Glnfs*4) in the DAG1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 735 amino acid(s) of the DAG1 protein.

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

Last Updated: Feb 28, 2024