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NM_001130987.2(DYSF):c.6173+1G>A AND Autosomal recessive limb-girdle muscular dystrophy type 2B

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004813212.1

Allele description [Variation Report for NM_001130987.2(DYSF):c.6173+1G>A]

NM_001130987.2(DYSF):c.6173+1G>A

Gene:
DYSF:dysferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.2
Genomic location:
Preferred name:
NM_001130987.2(DYSF):c.6173+1G>A
HGVS:
  • NC_000002.12:g.71681111G>A
  • NG_008694.1:g.232489G>A
  • NM_001130455.2:c.6059+1G>A
  • NM_001130976.2:c.6014+1G>A
  • NM_001130977.2:c.6077+1G>A
  • NM_001130978.2:c.6119+1G>A
  • NM_001130979.2:c.6149+1G>A
  • NM_001130980.2:c.6107+1G>A
  • NM_001130981.2:c.6170+1G>A
  • NM_001130982.2:c.6152+1G>A
  • NM_001130983.2:c.6122+1G>A
  • NM_001130984.2:c.6080+1G>A
  • NM_001130985.2:c.6110+1G>A
  • NM_001130986.2:c.6017+1G>A
  • NM_001130987.2:c.6173+1G>AMANE SELECT
  • NM_003494.4:c.6056+1G>A
  • LRG_845t1:c.6056+1G>A
  • LRG_845t2:c.6173+1G>A
  • LRG_845:g.232489G>A
  • NC_000002.11:g.71908241G>A
Molecular consequence:
  • NM_001130455.2:c.6059+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001130976.2:c.6014+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001130977.2:c.6077+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001130978.2:c.6119+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001130979.2:c.6149+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001130980.2:c.6107+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001130981.2:c.6170+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001130982.2:c.6152+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001130983.2:c.6122+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001130984.2:c.6080+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001130985.2:c.6110+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001130986.2:c.6017+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001130987.2:c.6173+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_003494.4:c.6056+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005438219Institute of Human Genetics, University of Wuerzburg
no assertion criteria provided
Likely pathogenicunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Institute of Human Genetics, University of Wuerzburg, SCV005438219.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Feb 25, 2025