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NM_003494.3(DYSF):c.[3516_3517delTT];[5078G>A] AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 6, 2013
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:
RCV000198403.2

Allele description [Variation Report for NM_003494.3(DYSF):c.[3516_3517delTT];[5078G>A]]

NM_001130987.2(DYSF):c.3570_3571del (p.Phe1190_Ser1191insTer)

Gene:
DYSF:dysferlin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p13.2
Genomic location:
Preferred name:
NM_001130987.2(DYSF):c.3570_3571del (p.Phe1190_Ser1191insTer)
HGVS:
  • NC_000002.12:g.71590284_71590285del
  • NG_008694.1:g.141662_141663del
  • NM_001130455.2:c.3519_3520del
  • NM_001130976.2:c.3474_3475del
  • NM_001130977.2:c.3474_3475del
  • NM_001130978.2:c.3516_3517del
  • NM_001130979.2:c.3609_3610del
  • NM_001130980.2:c.3567_3568del
  • NM_001130981.2:c.3567_3568del
  • NM_001130982.2:c.3612_3613del
  • NM_001130983.2:c.3519_3520del
  • NM_001130984.2:c.3477_3478del
  • NM_001130985.2:c.3570_3571del
  • NM_001130986.2:c.3477_3478del
  • NM_001130987.2:c.3570_3571delMANE SELECT
  • NM_003494.4:c.3516_3517del
  • NP_001123927.1:p.Phe1173_Ser1174insTer
  • NP_001124448.1:p.Phe1158_Ser1159insTer
  • NP_001124449.1:p.Phe1158_Ser1159insTer
  • NP_001124450.1:p.Phe1172_Ser1173insTer
  • NP_001124451.1:p.Phe1203_Ser1204insTer
  • NP_001124452.1:p.Phe1189_Ser1190insTer
  • NP_001124453.1:p.Phe1189_Ser1190insTer
  • NP_001124454.1:p.Phe1204_Ser1205insTer
  • NP_001124455.1:p.Phe1173_Ser1174insTer
  • NP_001124456.1:p.Phe1159_Ser1160insTer
  • NP_001124457.1:p.Phe1190_Ser1191insTer
  • NP_001124458.1:p.Phe1159_Ser1160insTer
  • NP_001124459.1:p.Phe1190_Ser1191insTer
  • NP_003485.1:p.Phe1172_Ser1173insTer
  • LRG_845t1:c.3516_3517del
  • LRG_845t2:c.3570_3571del
  • LRG_845:g.141662_141663del
  • LRG_845p1:p.Phe1172_Ser1173insTer
  • LRG_845p2:p.Phe1190_Ser1191insTer
  • NC_000002.11:g.71817411_71817412del
  • NC_000002.11:g.71817414_71817415del
  • NM_003494.3:c.3516_3517delTT
  • NM_003494.4:c.3516_3517delTT
Links:
dbSNP: rs766341386
NCBI 1000 Genomes Browser:
rs766341386
Molecular consequence:
  • NM_001130455.2:c.3519_3520del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130976.2:c.3474_3475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130977.2:c.3474_3475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130978.2:c.3516_3517del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130979.2:c.3609_3610del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130980.2:c.3567_3568del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130981.2:c.3567_3568del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130982.2:c.3612_3613del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130983.2:c.3519_3520del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130984.2:c.3477_3478del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130985.2:c.3570_3571del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130986.2:c.3477_3478del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001130987.2:c.3570_3571del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003494.4:c.3516_3517del - frameshift variant - [Sequence Ontology: SO:0001589]

NM_001130987.2(DYSF):c.5195G>A (p.Arg1732Gln)

Gene:
DYSF:dysferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.2
Genomic location:
Preferred name:
NM_001130987.2(DYSF):c.5195G>A (p.Arg1732Gln)
HGVS:
  • NC_000002.12:g.71665182G>A
  • NG_008694.1:g.216560G>A
  • NM_001130455.2:c.5081G>A
  • NM_001130976.2:c.5036G>A
  • NM_001130977.2:c.5099G>A
  • NM_001130978.2:c.5141G>A
  • NM_001130979.2:c.5171G>A
  • NM_001130980.2:c.5129G>A
  • NM_001130981.2:c.5192G>A
  • NM_001130982.2:c.5174G>A
  • NM_001130983.2:c.5144G>A
  • NM_001130984.2:c.5102G>A
  • NM_001130985.2:c.5132G>A
  • NM_001130986.2:c.5039G>A
  • NM_001130987.2:c.5195G>AMANE SELECT
  • NM_003494.4:c.5078G>A
  • NP_001123927.1:p.Arg1694Gln
  • NP_001124448.1:p.Arg1679Gln
  • NP_001124449.1:p.Arg1700Gln
  • NP_001124450.1:p.Arg1714Gln
  • NP_001124451.1:p.Arg1724Gln
  • NP_001124452.1:p.Arg1710Gln
  • NP_001124453.1:p.Arg1731Gln
  • NP_001124454.1:p.Arg1725Gln
  • NP_001124455.1:p.Arg1715Gln
  • NP_001124456.1:p.Arg1701Gln
  • NP_001124457.1:p.Arg1711Gln
  • NP_001124458.1:p.Arg1680Gln
  • NP_001124459.1:p.Arg1732Gln
  • NP_003485.1:p.Arg1693Gln
  • LRG_845t1:c.5078G>A
  • LRG_845t2:c.5195G>A
  • LRG_845:g.216560G>A
  • LRG_845p1:p.Arg1693Gln
  • LRG_845p2:p.Arg1732Gln
  • NC_000002.11:g.71892312G>A
  • NM_003494.3:c.5078G>A
  • O75923:p.Arg1693Gln
Protein change:
R1679Q
Links:
UniProtKB: O75923#VAR_024870; dbSNP: rs779987458
NCBI 1000 Genomes Browser:
rs779987458
Molecular consequence:
  • NM_001130455.2:c.5081G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130976.2:c.5036G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130977.2:c.5099G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130978.2:c.5141G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130979.2:c.5171G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130980.2:c.5129G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130981.2:c.5192G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130982.2:c.5174G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130983.2:c.5144G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130984.2:c.5102G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130985.2:c.5132G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130986.2:c.5039G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130987.2:c.5195G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003494.4:c.5078G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Miyoshi muscular dystrophy 1 (MMD1)
Identifiers:
MONDO: MONDO:0024545; MedGen: C4551973; Orphanet: 45448; OMIM: 254130
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
Name:
Distal myopathy with anterior tibial onset
Identifiers:
MONDO: MONDO:0011721; MedGen: C1847532; Orphanet: 178400; OMIM: 606768

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000255363UCLA Clinical Genomics Center, UCLA - CES
criteria provided, single submitter

(Lee et al. (JAMA. 2014))		Likely pathogenic
(Aug 6, 2013) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
European Caucasian,African Americanunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF.

JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604.

PubMed [citation]
PMID:
25326637
PMCID:
PMC4278636

Details of each submission

From UCLA Clinical Genomics Center, UCLA - CES, SCV000255363.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1European Caucasian,African Americannot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024