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NM_004006.3(DMD):c.8706G>A (p.Arg2902=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 30, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003343932.2

Allele description [Variation Report for NM_004006.3(DMD):c.8706G>A (p.Arg2902=)]

NM_004006.3(DMD):c.8706G>A (p.Arg2902=)

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.2
Genomic location:
Preferred name:
NM_004006.3(DMD):c.8706G>A (p.Arg2902=)
HGVS:
  • NC_000023.11:g.31478337C>T
  • NG_012232.1:g.1866273G>A
  • NM_000109.4:c.8682G>A
  • NM_004006.3:c.8706G>AMANE SELECT
  • NM_004009.3:c.8694G>A
  • NM_004010.3:c.8337G>A
  • NM_004011.4:c.4683G>A
  • NM_004012.4:c.4674G>A
  • NM_004013.3:c.1326G>A
  • NM_004014.3:c.519G>A
  • NM_004020.4:c.1326G>A
  • NM_004021.3:c.1326G>A
  • NM_004022.3:c.1326G>A
  • NM_004023.3:c.1326G>A
  • NP_000100.3:p.Arg2894=
  • NP_003997.1:p.Arg2902=
  • NP_003997.2:p.Arg2902=
  • NP_004000.1:p.Arg2898=
  • NP_004001.1:p.Arg2779=
  • NP_004002.3:p.Arg1561=
  • NP_004003.2:p.Arg1558=
  • NP_004004.2:p.Arg442=
  • NP_004005.2:p.Arg173=
  • NP_004011.3:p.Arg442=
  • NP_004012.2:p.Arg442=
  • NP_004013.2:p.Arg442=
  • NP_004014.2:p.Arg442=
  • LRG_199t1:c.8706G>A
  • LRG_199:g.1866273G>A
  • LRG_199p1:p.Arg2902=
  • NC_000023.10:g.31496454C>T
  • NM_004006.2:c.8706G>A
Links:
dbSNP: rs899851642
NCBI 1000 Genomes Browser:
rs899851642
Molecular consequence:
  • NM_000109.4:c.8682G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004006.3:c.8706G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004009.3:c.8694G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004010.3:c.8337G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004011.4:c.4683G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004012.4:c.4674G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004013.3:c.1326G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004014.3:c.519G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004020.4:c.1326G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004021.3:c.1326G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004022.3:c.1326G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004023.3:c.1326G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004050855Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Aug 30, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004050855.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Apr 13, 2025