NM_001130987.2(DYSF):c.205G>C (p.Val69Leu) AND not specified

Clinical significance:Likely benign (Last evaluated: Apr 5, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000284030.4

Allele description [Variation Report for NM_001130987.2(DYSF):c.205G>C (p.Val69Leu)]

NM_001130987.2(DYSF):c.205G>C (p.Val69Leu)

Gene:
DYSF:dysferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.2
Genomic location:
Preferred name:
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu)
HGVS:
  • NC_000002.12:g.71481936G>C
  • NG_008694.1:g.33314G>C
  • NM_001130455.2:c.205G>C
  • NM_001130976.2:c.202G>C
  • NM_001130977.2:c.202G>C
  • NM_001130978.2:c.202G>C
  • NM_001130979.2:c.202G>C
  • NM_001130980.2:c.202G>C
  • NM_001130981.2:c.202G>C
  • NM_001130982.2:c.205G>C
  • NM_001130983.2:c.205G>C
  • NM_001130984.2:c.205G>C
  • NM_001130985.2:c.205G>C
  • NM_001130986.2:c.205G>C
  • NM_001130987.2:c.205G>CMANE SELECT
  • NM_003494.4:c.202G>C
  • NP_001123927.1:p.Val69Leu
  • NP_001124448.1:p.Val68Leu
  • NP_001124449.1:p.Val68Leu
  • NP_001124450.1:p.Val68Leu
  • NP_001124451.1:p.Val68Leu
  • NP_001124452.1:p.Val68Leu
  • NP_001124453.1:p.Val68Leu
  • NP_001124454.1:p.Val69Leu
  • NP_001124455.1:p.Val69Leu
  • NP_001124456.1:p.Val69Leu
  • NP_001124457.1:p.Val69Leu
  • NP_001124458.1:p.Val69Leu
  • NP_001124459.1:p.Val69Leu
  • NP_003485.1:p.Val68Leu
  • LRG_845t1:c.202G>C
  • LRG_845t2:c.205G>C
  • LRG_845:g.33314G>C
  • LRG_845p1:p.Val68Leu
  • LRG_845p2:p.Val69Leu
  • NC_000002.11:g.71709066G>C
  • NM_003494.3:c.202G>C
Protein change:
V68L
Links:
dbSNP: rs114986640
NCBI 1000 Genomes Browser:
rs114986640
Molecular consequence:
  • NM_001130455.2:c.205G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130976.2:c.202G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130977.2:c.202G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130978.2:c.202G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130979.2:c.202G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130980.2:c.202G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130981.2:c.202G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130982.2:c.205G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130983.2:c.205G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130984.2:c.205G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130985.2:c.205G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130986.2:c.205G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130987.2:c.205G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003494.4:c.202G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000337601EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely benign
(Apr 5, 2017)
germlineclinical testing

Citation Link,

SCV000527058GeneDxcriteria provided, single submitter
Likely benign
(Nov 21, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000337601.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From GeneDx, SCV000527058.4

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: May 23, 2021

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