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NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 2, 2015
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:
RCV000078412.18

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]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000110258Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Uncertain significance
(Oct 2, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000110258.8

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

Last Updated: Jul 7, 2024