NM_000337.6(SGCD):c.798C>T (p.Cys266=) AND Autosomal recessive limb-girdle muscular dystrophy type 2F

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Nov 20, 2023
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:: RCV001413425.8

Allele description [Variation Report for NM_000337.6(SGCD):c.798C>T (p.Cys266=)]

NM_000337.6(SGCD):c.798C>T (p.Cys266=)

Gene:

SGCD:sarcoglycan delta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q33.3

Genomic location:

Preferred name:

NM_000337.6(SGCD):c.798C>T (p.Cys266=)

HGVS:

NC_000005.10:g.156759315C>T
NG_008693.2:g.893973C>T
NM_000337.6:c.798C>TMANE SELECT
NM_001128209.2:c.795C>T
NP_000328.2:p.Cys266=
NP_001121681.1:p.Cys265=
LRG_205t1:c.798C>T
LRG_205:g.893973C>T
NC_000005.9:g.156186326C>T
NM_000337.5:c.798C>T

Links:

dbSNP: rs371850230

NCBI 1000 Genomes Browser:

rs371850230

Molecular consequence:

NM_000337.6:c.798C>T - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001128209.2:c.795C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMDR6)
Synonyms:: Limb-girdle muscular dystrophy, type 2F; Muscular dystrophy limb-girdle with delta-sarcoglyan deficiency; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6
Identifiers:: MONDO: MONDO:0011028; MedGen: C1832525; Orphanet: 219; OMIM: 601287

Recent activity

Clear Turn Off Turn On

Burkholderia sp. ISOM061_OTU58 16S ribosomal RNA gene, partial sequence
Burkholderia sp. ISOM061_OTU58 16S ribosomal RNA gene, partial sequence
gi|452098106|gb|KC256349.1|

Nucleotide
Homologene neighbors for GEO Profiles (Select 131503572) (0)
GEO Profiles
Chromosome neighbors for GEO Profiles (Select 131507900) (18)
GEO Profiles
LPO lactoperoxidase [Homo sapiens]
LPO lactoperoxidase [Homo sapiens]
Gene ID:4025

Gene
Gene Links for GEO Profiles (Select 131492382) (1)
Gene

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
SCV001615539	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Nov 20, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV003931920	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Feb 8, 2023)	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

SCV001615539

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Nov 20, 2023)

germline

clinical testing

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

SCV003931920

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Feb 8, 2023)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001615539.4

#	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

From Genome-Nilou Lab, SCV003931920.1

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine