NM_000023.4(SGCA):c.366G>A (p.Leu122=) AND Autosomal recessive limb-girdle muscular dystrophy type 2D

Clinical significance:Benign (Last evaluated: Oct 19, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001083525.2

Allele description [Variation Report for NM_000023.4(SGCA):c.366G>A (p.Leu122=)]

NM_000023.4(SGCA):c.366G>A (p.Leu122=)

Gene:
SGCA:sarcoglycan alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.33
Genomic location:
Preferred name:
NM_000023.4(SGCA):c.366G>A (p.Leu122=)
HGVS:
  • NC_000017.11:g.50168000G>A
  • NG_008889.1:g.6996G>A
  • NM_000023.4:c.366G>AMANE SELECT
  • NM_001135697.3:c.366G>A
  • NP_000014.1:p.Leu122=
  • NP_001129169.1:p.Leu122=
  • LRG_203t1:c.366G>A
  • LRG_203:g.6996G>A
  • NC_000017.10:g.48245361G>A
  • NM_000023.2:c.366G>A
  • NM_000023.3:c.366G>A
  • NR_135553.2:n.402G>A
Links:
dbSNP: rs147739328
NCBI 1000 Genomes Browser:
rs147739328
Molecular consequence:
  • NR_135553.2:n.402G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000023.4:c.366G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001135697.3:c.366G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D)
Synonyms:
ADHALINOPATHY, PRIMARY; Limb-girdle muscular dystrophy, type 2D; Muscular dystrophy limb-girdle with alpha-sarcoglycan; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011968; MedGen: C2936332; Orphanet: 62; OMIM: 608099

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001017384Invitaecriteria provided, single submitter
Benign
(Oct 19, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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, SCV001017384.3

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

Last Updated: Jun 14, 2021

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