NM_000232.5(SGCB):c.124_125insTTA (p.Ala42delinsValThr) AND Autosomal recessive limb-girdle muscular dystrophy type 2E

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 5, 2018
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:: RCV000674967.1

Allele description [Variation Report for NM_000232.5(SGCB):c.124_125insTTA (p.Ala42delinsValThr)]

NM_000232.5(SGCB):c.124_125insTTA (p.Ala42delinsValThr)

Gene:

SGCB:sarcoglycan beta [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

4q12

Genomic location:

Preferred name:

NM_000232.5(SGCB):c.124_125insTTA (p.Ala42delinsValThr)

HGVS:

NC_000004.12:g.52033549_52033550insTAA
NG_008891.1:g.9770_9771insTTA
NM_000232.5:c.124_125insTTAMANE SELECT
NP_000223.1:p.Ala42delinsValThr
NP_000223.1:p.Ala42delinsValThr
LRG_204t1:c.124_125insTTA
LRG_204:g.9770_9771insTTA
LRG_204p1:p.Ala42delinsValThr
NC_000004.11:g.52899715_52899716insTAA
NM_000232.4:c.124_125insTTA

Links:

dbSNP: rs1553940680

NCBI 1000 Genomes Browser:

rs1553940680

Molecular consequence:

NM_000232.5:c.124_125insTTA - inframe_indel - [Sequence Ontology: SO:0001820]

Condition(s)

Name:: Autosomal recessive limb-girdle muscular dystrophy type 2E (LGMDR4)
Synonyms:: Limb-girdle muscular dystrophy, type 2E; Muscular dystrophy limb-girdle with beta-sarcoglycan deficiency; Beta-sarcoglycan limb-girdle muscular dystrophy; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011423; MedGen: C1858593; Orphanet: 119; OMIM: 604286

Recent activity

Clear Turn Off Turn On

Oryza rufipogon strain H09 chromosome 6 marker STS042 genomic sequence, sequence...
Oryza rufipogon strain H09 chromosome 6 marker STS042 genomic sequence, sequence tagged site
gi|169874168|gb|EF003762.1|

Nucleotide
Bulbophyllum latibrachiatum isolate FS5718 atpH-atpI intergenic spacer, partial ...
Bulbophyllum latibrachiatum isolate FS5718 atpH-atpI intergenic spacer, partial sequence; and ATP synthase (atpI) gene, partial cds; chloroplast
gi|927091735|gb|KJ559016.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000800385	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Jun 5, 2018)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000800385

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Jun 5, 2018)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Counsyl, SCV000800385.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 5, 2023

ClinVar

Relating variation to medicine