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NM_001130987.2(DYSF):c.4221+96C>T AND Miyoshi muscular dystrophy 1

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 10, 2021
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:
RCV001527264.2

Allele description [Variation Report for NM_001130987.2(DYSF):c.4221+96C>T]

NM_001130987.2(DYSF):c.4221+96C>T

Gene:
DYSF:dysferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.2
Genomic location:
Preferred name:
NM_001130987.2(DYSF):c.4221+96C>T
HGVS:
  • NC_000002.12:g.71611722C>T
  • NG_008694.1:g.163100C>T
  • NM_001130455.2:c.4170+96C>T
  • NM_001130976.2:c.4125+96C>T
  • NM_001130977.2:c.4125+96C>T
  • NM_001130978.2:c.4167+96C>T
  • NM_001130979.2:c.4260+96C>T
  • NM_001130980.2:c.4218+96C>T
  • NM_001130981.2:c.4218+96C>T
  • NM_001130982.2:c.4263+96C>T
  • NM_001130983.2:c.4170+96C>T
  • NM_001130984.2:c.4128+96C>T
  • NM_001130985.2:c.4221+96C>T
  • NM_001130986.2:c.4128+96C>T
  • NM_001130987.2:c.4221+96C>TMANE SELECT
  • NM_003494.4:c.4167+96C>T
  • LRG_845t1:c.4167+96C>T
  • LRG_845t2:c.4221+96C>T
  • LRG_845:g.163100C>T
  • NC_000002.11:g.71838852C>T
  • NM_003494.3:c.4167+96C>T
Links:
dbSNP: rs2016605
NCBI 1000 Genomes Browser:
rs2016605
Molecular consequence:
  • NM_001130455.2:c.4170+96C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001130976.2:c.4125+96C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001130977.2:c.4125+96C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001130978.2:c.4167+96C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001130979.2:c.4260+96C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001130980.2:c.4218+96C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001130981.2:c.4218+96C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001130982.2:c.4263+96C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001130983.2:c.4170+96C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001130984.2:c.4128+96C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001130985.2:c.4221+96C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001130986.2:c.4128+96C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001130987.2:c.4221+96C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003494.4:c.4167+96C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Miyoshi muscular dystrophy 1 (MMD1)
Identifiers:
MONDO: MONDO:0024545; MedGen: C4551973; Orphanet: 45448; OMIM: 254130

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001738222Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jun 10, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genome-Nilou Lab, SCV001738222.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024