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NM_000232.5(SGCB):c.12GGC[6] (p.Ala8_Ala9dup) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Apr 30, 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:
RCV000269382.6

Allele description [Variation Report for NM_000232.5(SGCB):c.12GGC[6] (p.Ala8_Ala9dup)]

NM_000232.5(SGCB):c.12GGC[6] (p.Ala8_Ala9dup)

Genes:
LOC129992585:ATAC-STARR-seq lymphoblastoid silent region 15421 [Gene]
SGCB:sarcoglycan beta [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
4q12
Genomic location:
Preferred name:
NM_000232.5(SGCB):c.12GGC[6] (p.Ala8_Ala9dup)
HGVS:
  • NC_000004.12:g.52038239CGC[6]
  • NG_008891.1:g.5072GGC[6]
  • NM_000232.5:c.12GGC[6]MANE SELECT
  • NP_000223.1:p.Ala8_Ala9dup
  • LRG_204:g.5072GGC[6]
  • NC_000004.11:g.52904402_52904403insGCCGCC
  • NC_000004.11:g.52904405CGC[6]
  • NM_000232.4:c.18_23dup
  • NM_000232.5:c.18_23dupMANE SELECT
Links:
dbSNP: rs768838951
NCBI 1000 Genomes Browser:
rs768838951
Molecular consequence:
  • NM_000232.5:c.12GGC[6] - inframe_insertion - [Sequence Ontology: SO:0001821]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000335547Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions)		Uncertain significance
(Sep 24, 2015) 		germlineclinical testing

Citation Link,

SCV002599666GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Apr 30, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000335547.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV002599666.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed at significant frequency in large population cohorts (gnomAD); In-frame duplication of 2 amino acids in a repetitive region with no known function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 30564623)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 14, 2023