NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=) AND Autosomal recessive limb-girdle muscular dystrophy type 2B

Clinical significance:Benign (Last evaluated: Sep 16, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001271538.1

Allele description [Variation Report for NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=)]

NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=)

Gene:
DYSF:dysferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.2
Genomic location:
Preferred name:
NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=)
HGVS:
  • NC_000002.12:g.71612796G>A
  • NG_008694.1:g.164174G>A
  • NM_001130455.2:c.4326G>A
  • NM_001130976.2:c.4281G>A
  • NM_001130977.2:c.4281G>A
  • NM_001130978.2:c.4323G>A
  • NM_001130979.2:c.4416G>A
  • NM_001130980.2:c.4374G>A
  • NM_001130981.2:c.4374G>A
  • NM_001130982.2:c.4419G>A
  • NM_001130983.2:c.4326G>A
  • NM_001130984.2:c.4284G>A
  • NM_001130985.2:c.4377G>A
  • NM_001130986.2:c.4284G>A
  • NM_001130987.2:c.4377G>AMANE SELECT
  • NM_003494.4:c.4323G>A
  • NP_001123927.1:p.Gln1442=
  • NP_001124448.1:p.Gln1427=
  • NP_001124449.1:p.Gln1427=
  • NP_001124450.1:p.Gln1441=
  • NP_001124451.1:p.Gln1472=
  • NP_001124452.1:p.Gln1458=
  • NP_001124453.1:p.Gln1458=
  • NP_001124454.1:p.Gln1473=
  • NP_001124455.1:p.Gln1442=
  • NP_001124456.1:p.Gln1428=
  • NP_001124457.1:p.Gln1459=
  • NP_001124458.1:p.Gln1428=
  • NP_001124459.1:p.Gln1459=
  • NP_003485.1:p.Gln1441=
  • LRG_845t1:c.4323G>A
  • LRG_845t2:c.4377G>A
  • LRG_845:g.164174G>A
  • LRG_845p1:p.Gln1441=
  • LRG_845p2:p.Gln1459=
  • NC_000002.11:g.71839926G>A
  • NM_003494.3:c.4323G>A
Links:
dbSNP: rs76576806
NCBI 1000 Genomes Browser:
rs76576806
Molecular consequence:
  • NM_001130455.2:c.4326G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130976.2:c.4281G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130977.2:c.4281G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130978.2:c.4323G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130979.2:c.4416G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130980.2:c.4374G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130981.2:c.4374G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130982.2:c.4419G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130983.2:c.4326G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130984.2:c.4284G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130985.2:c.4377G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130986.2:c.4284G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001130987.2:c.4377G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003494.4:c.4323G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B)
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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001452771Natera, Inc.no assertion criteria providedBenign
(Sep 16, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001452771.1

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

Last Updated: Nov 27, 2021

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