U.S. flag

An official website of the United States government

NM_004006.3(DMD):c.7310-36C>T AND multiple conditions

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 10, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001826758.1

Allele description [Variation Report for NM_004006.3(DMD):c.7310-36C>T]

NM_004006.3(DMD):c.7310-36C>T

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.1
Genomic location:
Preferred name:
NM_004006.3(DMD):c.7310-36C>T
HGVS:
  • NC_000023.11:g.31774228G>A
  • NG_012232.1:g.1570382C>T
  • NM_000109.4:c.7286-36C>T
  • NM_004006.3:c.7310-36C>TMANE SELECT
  • NM_004009.3:c.7298-36C>T
  • NM_004010.3:c.6941-36C>T
  • NM_004011.4:c.3287-36C>T
  • NM_004012.4:c.3278-36C>T
  • NM_004013.3:c.-71-36C>T
  • NM_004020.4:c.-71-36C>T
  • NM_004021.3:c.-71-36C>T
  • NM_004022.3:c.-71-36C>T
  • NM_004023.3:c.-71-36C>T
  • LRG_199t1:c.7310-36C>T
  • LRG_199:g.1570382C>T
  • NC_000023.10:g.31792345G>A
  • NM_004006.2:c.7310-36C>T
Links:
dbSNP: rs72466586
NCBI 1000 Genomes Browser:
rs72466586
Molecular consequence:
  • NM_000109.4:c.7286-36C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004006.3:c.7310-36C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004009.3:c.7298-36C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004010.3:c.6941-36C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004011.4:c.3287-36C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004012.4:c.3278-36C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004013.3:c.-71-36C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004020.4:c.-71-36C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004021.3:c.-71-36C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004022.3:c.-71-36C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004023.3:c.-71-36C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Becker muscular dystrophy (BMD)
Synonyms:
Benign pseudohypertrophic muscular dystrophy; Becker's muscular dystrophy; Muscular dystrophy pseudohypertrophic progressive, Becker type
Identifiers:
MONDO: MONDO:0010311; MedGen: C0917713; Orphanet: 98895; OMIM: 300376
Name:
Duchenne muscular dystrophy (DMD)
Synonyms:
Muscular dystrophy, pseudohypertrophic progressive, Duchenne type
Identifiers:
MONDO: MONDO:0010679; MedGen: C0013264; Orphanet: 98896; OMIM: 310200
Name:
Cardiomyopathy (CMYO)
Synonyms:
Cardiomyopathies
Identifiers:
MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
Name:
Dystrophin deficiency
Identifiers:

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
SCV002087778Natera, Inc.
no assertion criteria provided
Benign
(Apr 10, 2018) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV002087778.1

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

Last Updated: Sep 29, 2024