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NM_004006.3(DMD):c.3889G>T (p.Gly1297Cys) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV001535585.1

Allele description [Variation Report for NM_004006.3(DMD):c.3889G>T (p.Gly1297Cys)]

NM_004006.3(DMD):c.3889G>T (p.Gly1297Cys)

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.1
Genomic location:
Preferred name:
NM_004006.3(DMD):c.3889G>T (p.Gly1297Cys)
HGVS:
  • NC_000023.11:g.32441212C>A
  • NG_012232.1:g.903398G>T
  • NM_000109.4:c.3865G>T
  • NM_004006.3:c.3889G>TMANE SELECT
  • NM_004009.3:c.3877G>T
  • NM_004010.3:c.3520G>T
  • NP_000100.3:p.Gly1289Cys
  • NP_003997.2:p.Gly1297Cys
  • NP_004000.1:p.Gly1293Cys
  • NP_004001.1:p.Gly1174Cys
  • LRG_199t1:c.3889G>T
  • LRG_199:g.903398G>T
  • NC_000023.10:g.32459329C>A
  • NM_004006.2:c.3889G>T
Protein change:
G1174C
Links:
dbSNP: rs941573844
NCBI 1000 Genomes Browser:
rs941573844
Molecular consequence:
  • NM_000109.4:c.3865G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004006.3:c.3889G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004009.3:c.3877G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004010.3:c.3520G>T - missense variant - [Sequence Ontology: SO:0001583]

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:
Dilated cardiomyopathy 3B (CMD3B)
Synonyms:
CARDIOMYOPATHY, DILATED, X-LINKED; CMD3B: DMD-Related Dilated Cardiomyopathy
Identifiers:
MONDO: MONDO:0010542; MedGen: C3668940; Orphanet: 154; OMIM: 302045

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001749581GenomeConnect - Invitae Patient Insights Network
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect - Invitae Patient Insights Network, SCV001749581.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 07-16-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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

Last Updated: Feb 20, 2024