NM_001130987.2(DYSF):c.5642+3dup AND Autosomal recessive limb-girdle muscular dystrophy type 2B

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 30, 2017
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:: RCV000671083.1

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:: Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMDR2)
Synonyms:: Limb-girdle muscular dystrophy, type 2B; Muscular dystrophy, limb-girdle, type 3; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2
Identifiers:: MONDO: MONDO:0009676; MedGen: C1850889; Orphanet: 268; OMIM: 253601

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Colletotrichum fioriniae tRNA (uridine-2'-O-)-methyltransferase trm7 (TRM7), partial mRNA
gi|2743165784|ref|XM_053190893.2|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000796025	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Nov 30, 2017)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000796025

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Nov 30, 2017)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000796025.1

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

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

Last Updated: Sep 29, 2024

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