NM_004006.3(DMD):c.1812+1G>A AND multiple conditions

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 29, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV002483296.3

Allele description [Variation Report for NM_004006.3(DMD):c.1812+1G>A]

NM_004006.3(DMD):c.1812+1G>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.1812+1G>A

HGVS:

NC_000023.11:g.32573529C>T
NG_012232.1:g.771081G>A
NM_000109.4:c.1788+1G>A
NM_004006.3:c.1812+1G>AMANE SELECT
NM_004009.3:c.1800+1G>A
NM_004010.3:c.1443+1G>A
LRG_199t1:c.1812+1G>A
LRG_199:g.771081G>A
NC_000023.10:g.32591646C>T
NM_004006.2:c.1812+1G>A

Links:

dbSNP: rs373286166

NCBI 1000 Genomes Browser:

rs373286166

Molecular consequence:

NM_000109.4:c.1788+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_004006.3:c.1812+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_004009.3:c.1800+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
NM_004010.3:c.1443+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002777815	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 29, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004814236	North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 30, 2021)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 25637381, 27930565, 32194622, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002777815

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 29, 2022)

unknown

clinical testing

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

SCV004814236

North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 30, 2021)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

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
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, et al.

Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. Epub 2015 Jan 30.

PubMed [citation]

PMID:: 25637381
PMCID:: PMC4352885

A case report with the peculiar concomitance of 2 different genetic syndromes.

Lerario A, Colombo I, Milani D, Peverelli L, Villa L, Del Bo R, Sciacco M, Comi GP, Esposito S, Moggio M.

Medicine (Baltimore). 2016 Dec;95(49):e5567. doi: 10.1097/MD.0000000000005567. Review.

PubMed [citation]

PMID:: 27930565
PMCID:: PMC5266037

See all PubMed Citations (4)

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002777815.1

#	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

From North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust, SCV004814236.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

Criteria Codes: PS3 PS4_Str PP4_Mod

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

Last Updated: May 12, 2024

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