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NM_000232.5(SGCB):c.1A>G (p.Met1Val) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Dec 1, 2018
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:
RCV000173087.30

Allele description [Variation Report for NM_000232.5(SGCB):c.1A>G (p.Met1Val)]

NM_000232.5(SGCB):c.1A>G (p.Met1Val)

Genes:
LOC129992585:ATAC-STARR-seq lymphoblastoid silent region 15421 [Gene]
SGCB:sarcoglycan beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q12
Genomic location:
Preferred name:
NM_000232.5(SGCB):c.1A>G (p.Met1Val)
HGVS:
  • NC_000004.12:g.52038259T>C
  • NG_008891.1:g.5061A>G
  • NM_000232.5:c.1A>GMANE SELECT
  • NP_000223.1:p.Met1Val
  • NP_000223.1:p.Met1Val
  • LRG_204t1:c.1A>G
  • LRG_204:g.5061A>G
  • LRG_204p1:p.Met1Val
  • NC_000004.11:g.52904425T>C
  • NM_000232.4:c.1A>G
Links:
dbSNP: rs398123262
NCBI 1000 Genomes Browser:
rs398123262
Molecular consequence:
  • NM_000232.5:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_000232.5:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000224171Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions)		Pathogenic
(Jan 30, 2013) 		germlineclinical testing

Citation Link,

SCV001250324CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Pathogenic
(Dec 1, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000224171.6

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

From CeGaT Center for Human Genetics Tuebingen, SCV001250324.27

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

Last Updated: Nov 3, 2024