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NM_000232.5(SGCB):c.-10_22dup (p.Ala8fs) AND not provided

Germline classification:
no classifications from unflagged records (1 submission)
Last evaluated:
Dec 7, 2023
Review status:
no classifications from unflagged records
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:
RCV000596558.5

Allele description [Variation Report for NM_000232.5(SGCB):c.-10_22dup (p.Ala8fs)]

NM_000232.5(SGCB):c.-10_22dup (p.Ala8fs)

Genes:
LOC129992585:ATAC-STARR-seq lymphoblastoid silent region 15421 [Gene]
SGCB:sarcoglycan beta [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
4q12
Genomic location:
Preferred name:
NM_000232.5(SGCB):c.-10_22dup (p.Ala8fs)
HGVS:
  • NC_000004.12:g.52038250_52038281dup
  • NG_008891.1:g.5051_5082dup
  • NM_000232.5:c.-10_22dupMANE SELECT
  • NP_000223.1:p.Ala8fs
  • NP_000223.1:p.Ala8fs
  • LRG_204t1:c.-10_22dup
  • LRG_204:g.5051_5082dup
  • LRG_204p1:p.Ala8fs
  • NC_000004.11:g.52904403_52904404insCCGCCGCCGCCGCTGCCGCCATCTTCCCGCGC
  • NC_000004.11:g.52904416_52904447dup
  • NM_000232.4:c.-10_22dup
  • NM_000232.4:c.-10_22dup32
Protein change:
A8fs
Links:
dbSNP: rs1553940963
NCBI 1000 Genomes Browser:
rs1553940963
Molecular consequence:
  • NM_000232.5:c.-10_22dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_000232.5:c.-10_22dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

No clinical assertions found. See "Flagged submissions" below.

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000700913.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000700913Eurofins Ntd Llc (ga)
flagged submission
Reason: Outlier claim with insufficient supporting evidence
Notes: None

(EGL Classification Definitions 2015)
Uncertain significance
(Aug 21, 2015)
germlineclinical testing

Citation Link

Last Updated: Jun 23, 2024