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NM_004006.3(DMD):c.2330T>C (p.Leu777Pro) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 1, 2020
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:
RCV001832002.1

Allele description [Variation Report for NM_004006.3(DMD):c.2330T>C (p.Leu777Pro)]

NM_004006.3(DMD):c.2330T>C (p.Leu777Pro)

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.1
Genomic location:
Preferred name:
NM_004006.3(DMD):c.2330T>C (p.Leu777Pro)
HGVS:
  • NC_000023.11:g.32501805A>G
  • NG_012232.1:g.842805T>C
  • NM_000109.4:c.2306T>C
  • NM_004006.3:c.2330T>CMANE SELECT
  • NM_004009.3:c.2318T>C
  • NM_004010.3:c.1961T>C
  • NP_000100.3:p.Leu769Pro
  • NP_003997.1:p.Leu777Pro
  • NP_003997.2:p.Leu777Pro
  • NP_004000.1:p.Leu773Pro
  • NP_004001.1:p.Leu654Pro
  • LRG_199t1:c.2330T>C
  • LRG_199:g.842805T>C
  • LRG_199p1:p.Leu777Pro
  • NC_000023.10:g.32519922A>G
  • NM_004006.2:c.2330T>C
Protein change:
L654P
Links:
dbSNP: rs794727226
NCBI 1000 Genomes Browser:
rs794727226
Molecular consequence:
  • NM_000109.4:c.2306T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004006.3:c.2330T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004009.3:c.2318T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004010.3:c.1961T>C - 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:
Cardiomyopathy (CMYO)
Synonyms:
Cardiomyopathies
Identifiers:
MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
Name:
Dystrophin deficiency
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002092148Natera, Inc.
no assertion criteria provided
Uncertain significance
(Dec 1, 2020) 		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., SCV002092148.1

#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: Nov 10, 2024