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NM_000232.5(SGCB):c.799C>T (p.Arg267Cys) AND not specified

Germline classification:
Benign/Likely benign (3 submissions)
Last evaluated:
Dec 19, 2017
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:
RCV000284183.7

Allele description [Variation Report for NM_000232.5(SGCB):c.799C>T (p.Arg267Cys)]

NM_000232.5(SGCB):c.799C>T (p.Arg267Cys)

Gene:
SGCB:sarcoglycan beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q12
Genomic location:
Preferred name:
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys)
HGVS:
  • NC_000004.12:g.52024115G>A
  • NG_008891.1:g.19205C>T
  • NG_053164.1:g.1197C>T
  • NM_000232.5:c.799C>TMANE SELECT
  • NP_000223.1:p.Arg267Cys
  • NP_000223.1:p.Arg267Cys
  • LRG_204t1:c.799C>T
  • LRG_204:g.19205C>T
  • LRG_204p1:p.Arg267Cys
  • NC_000004.11:g.52890281G>A
  • NM_000232.4:c.799C>T
Protein change:
R267C
Links:
dbSNP: rs200761715
NCBI 1000 Genomes Browser:
rs200761715
Molecular consequence:
  • NM_000232.5:c.799C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000334852Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Benign
(Sep 1, 2015)
germlineclinical testing

Citation Link,

SCV000615221Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)
Likely benign
(Sep 23, 2016)
germlineclinical testing

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

SCV000714385GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Benign
(Dec 19, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Eurofins Ntd Llc (ga), SCV000334852.4

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

From Athena Diagnostics, SCV000615221.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV000714385.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Jun 29, 2024