NM_001130987.2(DYSF):c.2642A>C (p.Asp881Ala) AND not specified

Clinical significance:Benign (Last evaluated: Sep 12, 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:
RCV000153176.6

Allele description [Variation Report for NM_001130987.2(DYSF):c.2642A>C (p.Asp881Ala)]

NM_001130987.2(DYSF):c.2642A>C (p.Asp881Ala)

Gene:
DYSF:dysferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p13.2
Genomic location:
Preferred name:
NM_001130987.2(DYSF):c.2642A>C (p.Asp881Ala)
HGVS:
  • NC_000002.12:g.71568027A>C
  • NG_008694.1:g.119405A>C
  • NM_001130455.2:c.2591A>C
  • NM_001130976.2:c.2546A>C
  • NM_001130977.2:c.2546A>C
  • NM_001130978.2:c.2588A>C
  • NM_001130979.2:c.2681A>C
  • NM_001130980.2:c.2639A>C
  • NM_001130981.2:c.2639A>C
  • NM_001130982.2:c.2684A>C
  • NM_001130983.2:c.2591A>C
  • NM_001130984.2:c.2549A>C
  • NM_001130985.2:c.2642A>C
  • NM_001130986.2:c.2549A>C
  • NM_001130987.2:c.2642A>CMANE SELECT
  • NM_003494.4:c.2588A>C
  • NP_001123927.1:p.Asp864Ala
  • NP_001124448.1:p.Asp849Ala
  • NP_001124449.1:p.Asp849Ala
  • NP_001124450.1:p.Asp863Ala
  • NP_001124451.1:p.Asp894Ala
  • NP_001124452.1:p.Asp880Ala
  • NP_001124453.1:p.Asp880Ala
  • NP_001124454.1:p.Asp895Ala
  • NP_001124455.1:p.Asp864Ala
  • NP_001124456.1:p.Asp850Ala
  • NP_001124457.1:p.Asp881Ala
  • NP_001124458.1:p.Asp850Ala
  • NP_001124459.1:p.Asp881Ala
  • NP_003485.1:p.Asp863Ala
  • LRG_845t1:c.2588A>C
  • LRG_845t2:c.2642A>C
  • LRG_845:g.119405A>C
  • LRG_845p1:p.Asp863Ala
  • LRG_845p2:p.Asp881Ala
  • NC_000002.11:g.71795157A>C
  • NM_003494.3:c.2588A>C
Protein change:
D849A
Links:
dbSNP: rs35884879
NCBI 1000 Genomes Browser:
rs35884879
Molecular consequence:
  • NM_001130455.2:c.2591A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130976.2:c.2546A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130977.2:c.2546A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130978.2:c.2588A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130979.2:c.2681A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130980.2:c.2639A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130981.2:c.2639A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130982.2:c.2684A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130983.2:c.2591A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130984.2:c.2549A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130985.2:c.2642A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130986.2:c.2549A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130987.2:c.2642A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003494.4:c.2588A>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000202646EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Dec 16, 2013)
germlineclinical testing

Citation Link,

SCV000714973GeneDxcriteria provided, single submitter
Benign
(Sep 12, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000202646.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV000714973.1

#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: Nov 27, 2021

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