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NM_004006.3(DMD):c.2569C>T (p.Pro857Ser)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000227307.6
Variation ID:
227307
Description:
single nucleotide variant
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NM_004006.3(DMD):c.2569C>T (p.Pro857Ser)

Allele ID
231273
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp21.1
Genomic location
X: 32491330 (GRCh38) GRCh38 UCSC
X: 32509447 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.32509447G>A
NC_000023.11:g.32491330G>A
NG_012232.1:g.853280C>T
... more HGVS
Protein change
P857S, P853S, P734S, P849S
Other names
-
Canonical SPDI
NC_000023.11:32491329:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00265 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00006
The Genome Aggregation Database (gnomAD), exomes 0.00107
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Exome Aggregation Consortium (ExAC) 0.00109
1000 Genomes Project 0.00265
Links
ClinGen: CA10379494
dbSNP: rs552275776
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Aug 7, 2017 RCV000214891.3
Benign 1 criteria provided, single submitter Dec 4, 2020 RCV000465012.4
Benign 1 criteria provided, single submitter Nov 3, 2017 RCV000618914.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DMD Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
5376 5598

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Mar 13, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000270126.2
Submitted: (Mar 21, 2019)
Evidence details
Comment:
p.Pro857Ser in exon 20 of DMD: This variant is not expected to have clinical sig nificance because it has been identified in 0.9% (92/10124) of … (more)
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Duchenne muscular dystrophy
Allele origin: germline
Invitae
Accession: SCV000560872.5
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Aug 07, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000714969.1
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
(Mar 23, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000707111.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Nov 03, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000736468.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

Functional evidence

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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

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

Text-mined citations for rs552275776...

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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 Dec 04, 2021