NM_000231.3(SGCG):c.479T>C (p.Val160Ala) AND Autosomal recessive limb-girdle muscular dystrophy type 2C

Germline classification:: Benign (2 submissions)
Last evaluated:: Jan 29, 2024
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:: RCV000365766.15

Allele description [Variation Report for NM_000231.3(SGCG):c.479T>C (p.Val160Ala)]

NM_000231.3(SGCG):c.479T>C (p.Val160Ala)

Gene:

SGCG:sarcoglycan gamma [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.12

Genomic location:

Preferred name:

NM_000231.3(SGCG):c.479T>C (p.Val160Ala)

HGVS:

NC_000013.11:g.23279452T>C
NG_008759.1:g.103532T>C
NM_000231.3:c.479T>CMANE SELECT
NM_001378244.1:c.533T>C
NM_001378245.1:c.479T>C
NM_001378246.1:c.479T>C
NP_000222.1:p.Val160Ala
NP_000222.2:p.Val160Ala
NP_001365173.1:p.Val178Ala
NP_001365174.1:p.Val160Ala
NP_001365175.1:p.Val160Ala
LRG_207t1:c.479T>C
LRG_207:g.103532T>C
LRG_207p1:p.Val160Ala
NC_000013.10:g.23853591T>C
NM_000231.2:c.479T>C

Protein change:

V160A

Links:

dbSNP: rs527562042

NCBI 1000 Genomes Browser:

rs527562042

Molecular consequence:

NM_000231.3:c.479T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378244.1:c.533T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378245.1:c.479T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378246.1:c.479T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMDR5)
Synonyms:: Limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency; Muscular dystrophy, Duchenne-like; Duchenne-like muscular dystrophy, autosomal recessive, type 1; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009677; MedGen: C0410173; Orphanet: 353; OMIM: 253700

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000634386	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 29, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001453876	Natera, Inc.	no assertion criteria provided	Benign (Apr 19, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000634386

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jan 29, 2024)

germline

clinical testing

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

SCV001453876

Natera, Inc.

no assertion criteria provided

Benign
(Apr 19, 2020)

germline

clinical testing

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):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV000634386.9

#	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 Natera, Inc., SCV001453876.1

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

Last Updated: Feb 28, 2024

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