NM_000337.6(SGCD):c.848A>G (p.Gln283Arg) AND Primary dilated cardiomyopathy

Germline classification:: Likely benign (1 submission)
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:: RCV001293129.1

Allele description [Variation Report for NM_000337.6(SGCD):c.848A>G (p.Gln283Arg)]

NM_000337.6(SGCD):c.848A>G (p.Gln283Arg)

Gene:

SGCD:sarcoglycan delta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q33.3

Genomic location:

Preferred name:

NM_000337.6(SGCD):c.848A>G (p.Gln283Arg)

HGVS:

NC_000005.10:g.156759365A>G
NG_008693.2:g.894023A>G
NM_000337.6:c.848A>GMANE SELECT
NM_001128209.2:c.845A>G
NP_000328.2:p.Gln283Arg
NP_000328.2:p.Gln283Arg
NP_001121681.1:p.Gln282Arg
LRG_205t1:c.848A>G
LRG_205:g.894023A>G
LRG_205p1:p.Gln283Arg
NC_000005.9:g.156186376A>G
NM_000337.5:c.848A>G
NM_001128209.1:c.845A>G
c.848A>G

Protein change:

Q282R

Links:

dbSNP: rs397516338

NCBI 1000 Genomes Browser:

rs397516338

Molecular consequence:

NM_000337.6:c.848A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001128209.2:c.845A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Primary dilated cardiomyopathy (DCM)
Synonyms:: Dilated Cardiomyopathy
Identifiers:: EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001434119	Genetics and Genomics Program, Sidra Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001434119

Genetics and Genomics Program, Sidra Medicine

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign

unknown

research

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	yes	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Genetics and Genomics Program, Sidra Medicine, SCV001434119.1

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

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

Last Updated: Oct 13, 2024

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