Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

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

Help
Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 28, 2020
Accession:
VCV000167019.5
Variation ID:
167019
Description:
single nucleotide variant
Help

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

Allele ID
177347
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p13.2
Genomic location
2: 71568027 (GRCh38) GRCh38 UCSC
2: 71795157 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.71795157A>C
NC_000002.12:g.71568027A>C
NG_008694.1:g.119405A>C
... more HGVS
Protein change
D863A, D881A, D849A, D850A, D864A, D880A, D894A, D895A
Other names
-
Canonical SPDI
NC_000002.12:71568026:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00499 (C)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00185
1000 Genomes Project 0.00499
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00607
The Genome Aggregation Database (gnomAD) 0.00558
The Genome Aggregation Database (gnomAD) 0.00589
Trans-Omics for Precision Medicine (TOPMed) 0.00620
Trans-Omics for Precision Medicine (TOPMed) 0.00604
The Genome Aggregation Database (gnomAD), exomes 0.00143
Links
ClinGen: CA179987
dbSNP: rs35884879
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Sep 12, 2017 RCV000153176.6
Likely benign 1 criteria provided, single submitter May 11, 2018 RCV000710127.4
Benign 1 criteria provided, single submitter Nov 28, 2020 RCV001084336.2
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DYSF - - GRCh38
GRCh37
2091 2106

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Sep 12, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000714973.1
Submitted: (Mar 26, 2018)
Evidence details
Comment:
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 … (more)
Likely benign
(May 11, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000613193.2
Submitted: (Aug 31, 2018)
Evidence details
Benign
(Dec 16, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000202646.7
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Nov 28, 2020)
criteria provided, single submitter
Method: clinical testing
Qualitative or quantitative defects of dysferlin
Allele origin: germline
Invitae
Accession: SCV000649633.5
Submitted: (Jan 07, 2021)
Evidence details

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=DYSF - - - -

Text-mined citations for rs35884879...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021