NM_000232.5(SGCB):c.9_14dup (p.Ala8_Ala9dup) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:: Nov 16, 2020
Review status:: criteria provided, conflicting classifications

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:: RCV000726289.17

Allele description [Variation Report for NM_000232.5(SGCB):c.9_14dup (p.Ala8_Ala9dup)]

NM_000232.5(SGCB):c.9_14dup (p.Ala8_Ala9dup)

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.9_14dup (p.Ala8_Ala9dup)

HGVS:

NC_000004.12:g.52038251_52038256dup
NG_008891.1:g.5069_5074dup
NM_000232.5:c.9_14dupMANE SELECT
NM_000232.5:c.9_14dup
NP_000223.1:p.Ala8_Ala9dup
NP_000223.1:p.Ala8_Ala9dup
LRG_204t1:c.9_14dup
LRG_204:g.5069_5074dup
LRG_204p1:p.Ala8_Ala9dup
NC_000004.11:g.52904411_52904412insGCCGCT
NC_000004.11:g.52904417_52904422dup
NM_000232.3:c.9_14dup
NM_000232.4:c.9_14dup
NM_000232.4:c.9_14dupAGCGGC

Links:

dbSNP: rs886044103

NCBI 1000 Genomes Browser:

rs886044103

Molecular consequence:

NM_000232.5:c.9_14dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000568911	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Nov 16, 2020)	germline	clinical testing	Citation Link,
SCV000701335	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL ClinVar v180209 classification definitions)	Uncertain significance (Jul 23, 2018)	germline	clinical testing	Citation Link,
SCV001145589	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Uncertain significance (Nov 1, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000568911

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Nov 16, 2020)

germline

clinical testing

Citation Link,

SCV000701335

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)

Uncertain significance
(Jul 23, 2018)

germline

clinical testing

Citation Link,

SCV001145589

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Uncertain significance
(Nov 1, 2018)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	3	not provided	not provided	not provided	not provided	clinical 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 GeneDx, SCV000568911.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Eurofins Ntd Llc (ga), SCV000701335.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		3	not provided	not provided	not provided

From Athena Diagnostics, SCV001145589.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 19, 2024

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