NM_001130987.2(DYSF):c.5642+3dup AND Qualitative or quantitative defects of dysferlin

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 4, 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:: RCV001059454.7

Allele description [Variation Report for NM_001130987.2(DYSF):c.5642+3dup]

NM_001130987.2(DYSF):c.5642+3dup

Gene:

DYSF:dysferlin [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

2p13.2

Genomic location:

Preferred name:

NM_001130987.2(DYSF):c.5642+3dup

HGVS:

NC_000002.12:g.71669210_71669211insA
NC_000002.12:g.71669210dup
NG_008694.1:g.220588dup
NM_001130455.2:c.5528+3dup
NM_001130976.2:c.5483+3dup
NM_001130977.2:c.5546+3dup
NM_001130978.2:c.5588+3dup
NM_001130979.2:c.5618+3dup
NM_001130980.2:c.5576+3dup
NM_001130981.2:c.5639+3dup
NM_001130982.2:c.5621+3dup
NM_001130983.2:c.5591+3dup
NM_001130984.2:c.5549+3dup
NM_001130985.2:c.5579+3dup
NM_001130986.2:c.5486+3dup
NM_001130987.2:c.5642+3dupMANE SELECT
NM_003494.4:c.5525+3dup
LRG_845t1:c.5525+3dup
LRG_845t2:c.5642+3dup
LRG_845:g.220588dup
NC_000002.11:g.71896339_71896340insA
NC_000002.11:g.71896340dup
NM_003494.3:c.5525+3_5525+4insA
NM_003494.3:c.5525+3dupA

Links:

dbSNP: rs1341734203

NCBI 1000 Genomes Browser:

rs1341734203

Molecular consequence:

NM_001130455.2:c.5528+3dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001130976.2:c.5483+3dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001130977.2:c.5546+3dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001130978.2:c.5588+3dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001130979.2:c.5618+3dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001130980.2:c.5576+3dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001130981.2:c.5639+3dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001130982.2:c.5621+3dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001130983.2:c.5591+3dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001130984.2:c.5549+3dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001130985.2:c.5579+3dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001130986.2:c.5486+3dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001130987.2:c.5642+3dup - intron variant - [Sequence Ontology: SO:0001627]
NM_003494.4:c.5525+3dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Qualitative or quantitative defects of dysferlin
Synonyms:: Dysferlinopathy
Identifiers:: MONDO: MONDO:0016145; MedGen: C2931687

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Synthetic construct Mus musculus non-SMC condensin I complex, subunit H, mRNA (c...
Synthetic construct Mus musculus non-SMC condensin I complex, subunit H, mRNA (cDNA clone MGC:38424 IMAGE:5346298), complete cds
gi|18204542|gb|BC021499.1|

Nucleotide
Glucosamine 6-Phosphate N-Acetyltransferase
Glucosamine 6-Phosphate N-Acetyltransferase
An enzyme that catalyses the reaction of D-glucosamine 6-phosphate with ACETYL-COA to form N-acetylglucosamine 6-phosphate.<br/>Year introduced: 2006(1980)

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001224078	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Feb 4, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 17576681, 9536098, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001224078

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Feb 4, 2022)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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

Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.

Buratti E, Chivers M, Královicová J, Romano M, Baralle M, Krainer AR, Vorechovsky I.

Nucleic Acids Res. 2007;35(13):4250-63. Epub 2007 Jun 18.

PubMed [citation]

PMID:: 17576681
PMCID:: PMC1934990

Statistical features of human exons and their flanking regions.

Zhang MQ.

Hum Mol Genet. 1998 May;7(5):919-32.

PubMed [citation]

PMID:: 9536098

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001224078.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 555289). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 49 of the DYSF gene. It does not directly change the encoded amino acid sequence of the DYSF protein. It affects a nucleotide within the consensus splice site. 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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