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NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser) AND DYSF-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 24, 2024
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:
RCV003910035.2

Allele description [Variation Report for NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser)]

NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser)

Gene:
DYSF:dysferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.2
Genomic location:
Preferred name:
NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser)
HGVS:
  • NC_000002.12:g.71611511A>G
  • NG_008694.1:g.162889A>G
  • NM_001130455.2:c.4055A>G
  • NM_001130976.2:c.4010A>G
  • NM_001130977.2:c.4010A>G
  • NM_001130978.2:c.4052A>G
  • NM_001130979.2:c.4145A>G
  • NM_001130980.2:c.4103A>G
  • NM_001130981.2:c.4103A>G
  • NM_001130982.2:c.4148A>G
  • NM_001130983.2:c.4055A>G
  • NM_001130984.2:c.4013A>G
  • NM_001130985.2:c.4106A>G
  • NM_001130986.2:c.4013A>G
  • NM_001130987.2:c.4106A>GMANE SELECT
  • NM_003494.4:c.4052A>G
  • NP_001123927.1:p.Asn1352Ser
  • NP_001124448.1:p.Asn1337Ser
  • NP_001124449.1:p.Asn1337Ser
  • NP_001124450.1:p.Asn1351Ser
  • NP_001124451.1:p.Asn1382Ser
  • NP_001124452.1:p.Asn1368Ser
  • NP_001124453.1:p.Asn1368Ser
  • NP_001124454.1:p.Asn1383Ser
  • NP_001124455.1:p.Asn1352Ser
  • NP_001124456.1:p.Asn1338Ser
  • NP_001124457.1:p.Asn1369Ser
  • NP_001124458.1:p.Asn1338Ser
  • NP_001124459.1:p.Asn1369Ser
  • NP_003485.1:p.Asn1351Ser
  • LRG_845t1:c.4052A>G
  • LRG_845t2:c.4106A>G
  • LRG_845:g.162889A>G
  • LRG_845p1:p.Asn1351Ser
  • LRG_845p2:p.Asn1369Ser
  • NC_000002.11:g.71838641A>G
  • NM_003494.3:c.4052A>G
Protein change:
N1337S
Links:
dbSNP: rs139529811
NCBI 1000 Genomes Browser:
rs139529811
Molecular consequence:
  • NM_001130455.2:c.4055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130976.2:c.4010A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130977.2:c.4010A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130978.2:c.4052A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130979.2:c.4145A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130980.2:c.4103A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130981.2:c.4103A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130982.2:c.4148A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130983.2:c.4055A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130984.2:c.4013A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130985.2:c.4106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130986.2:c.4013A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130987.2:c.4106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003494.4:c.4052A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
DYSF-related disorder
Synonyms:
DYSF-related condition; DYSF-Related Disorders; DYSF- Related Disorder
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004721408PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Feb 24, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004721408.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The DYSF c.4052A>G variant is predicted to result in the amino acid substitution p.Asn1351Ser. This variant has been reported in the heterozygous state in an individual with Miyoshi myopathy (Table 2, Nilsson et al. 2013. PubMed ID: 23519732) and it was also reported in the homozygous state with another homozygous variant (p.Arg555Trp) in an individual with Miyoshi myopathy (Table 1, Nguyen et al. 2005. PubMed ID: 16010686). This variant is reported in 0.079% of alleles in individuals of Latino descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024