U.S. flag

An official website of the United States government

NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser) 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:
RCV001293238.9

Allele description [Variation Report for NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser)]

NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser)

Gene:
SGCB:sarcoglycan beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q12
Genomic location:
Preferred name:
NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser)
HGVS:
  • NC_000004.12:g.52029739T>G
  • NG_008891.1:g.13581A>C
  • NM_000232.5:c.368A>CMANE SELECT
  • NP_000223.1:p.Tyr123Ser
  • LRG_204t1:c.368A>C
  • LRG_204:g.13581A>C
  • LRG_204p1:p.Tyr123Ser
  • NC_000004.11:g.52895905T>G
  • NM_000232.4:c.368A>C
Links:
dbSNP: rs398123263
NCBI 1000 Genomes Browser:
rs398123263
Molecular consequence:
  • NM_000232.5:c.368A>C - 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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001434237Genetics and Genomics Program, Sidra Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely benignunknownresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedresearch

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, SCV001434237.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 7, 2024