NM_004006.3(DMD):c.1826A>G (p.Asp609Gly) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 15, 2021
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:: RCV002489841.1

Allele description [Variation Report for NM_004006.3(DMD):c.1826A>G (p.Asp609Gly)]

NM_004006.3(DMD):c.1826A>G (p.Asp609Gly)

Gene:

DMD:dystrophin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp21.1

Genomic location:

Preferred name:

NM_004006.3(DMD):c.1826A>G (p.Asp609Gly)

HGVS:

NC_000023.11:g.32565868T>C
NG_012232.1:g.778742A>G
NM_000109.4:c.1802A>G
NM_004006.3:c.1826A>GMANE SELECT
NM_004009.3:c.1814A>G
NM_004010.3:c.1457A>G
NP_000100.3:p.Asp601Gly
NP_003997.2:p.Asp609Gly
NP_004000.1:p.Asp605Gly
NP_004001.1:p.Asp486Gly
LRG_199t1:c.1826A>G
LRG_199:g.778742A>G
NC_000023.10:g.32583985T>C
NM_004006.2:c.1826A>G

Protein change:

D486G

Links:

dbSNP: rs2149095572

NCBI 1000 Genomes Browser:

rs2149095572

Molecular consequence:

NM_000109.4:c.1802A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004006.3:c.1826A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004009.3:c.1814A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004010.3:c.1457A>G - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002775872	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 15, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002775872

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 15, 2021)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Nothing to display

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002775872.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

ClinVar

Relating variation to medicine