U.S. flag

An official website of the United States government

NM_004006.3(DMD):c.357+5G>A AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 2, 2022
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:
RCV002458270.2

Allele description [Variation Report for NM_004006.3(DMD):c.357+5G>A]

NM_004006.3(DMD):c.357+5G>A

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.1
Genomic location:
Preferred name:
NM_004006.3(DMD):c.357+5G>A
HGVS:
  • NC_000023.11:g.32823290C>T
  • NG_012232.1:g.521320G>A
  • NM_000109.4:c.333+5G>A
  • NM_004006.3:c.357+5G>AMANE SELECT
  • NM_004009.3:c.345+5G>A
  • NM_004010.3:c.-13+5G>A
  • LRG_199t1:c.357+5G>A
  • LRG_199:g.521320G>A
  • NC_000023.10:g.32841407C>T
  • NM_004006.2:c.357+5G>A
Links:
dbSNP: rs778431187
NCBI 1000 Genomes Browser:
rs778431187
Molecular consequence:
  • NM_000109.4:c.333+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004006.3:c.357+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004009.3:c.345+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004010.3:c.-13+5G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002616737Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 2, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002616737.2

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

Description

The c.357+5G>A intronic variant results from a G to A substitution 5 nucleotides after coding exon 5 in the DMD gene. Based on data from gnomAD, the A allele has an overall frequency of 0.0005% (1/183181) total alleles studied, with 0 hemizygote(s) observed. The highest observed frequency was 0.0076% (1/13143) of African alleles. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 3, 2024