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NM_000337.6(SGCD):c.-44+1G>A AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 28, 2017
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:
RCV000667984.1

Allele description [Variation Report for NM_000337.6(SGCD):c.-44+1G>A]

NM_000337.6(SGCD):c.-44+1G>A

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.-44+1G>A
HGVS:
  • NC_000005.10:g.156327233G>A
  • NG_008693.2:g.461890G>A
  • NM_000337.6:c.-44+1G>AMANE SELECT
  • NM_001128209.2:c.-1+1G>A
  • NM_172244.3:c.-44+1G>A
  • LRG_205t1:c.-44+1G>A
  • LRG_205:g.461890G>A
  • NC_000005.9:g.155754243G>A
  • NM_000337.5:c.-44+1G>A
Links:
dbSNP: rs959438136
NCBI 1000 Genomes Browser:
rs959438136
Molecular consequence:
  • NM_000337.6:c.-44+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001128209.2:c.-1+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_172244.3:c.-44+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Dilated cardiomyopathy 1L (CMD1L)
Identifiers:
MONDO: MONDO:0011702; MedGen: C1847667; Orphanet: 154; OMIM: 606685
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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000792519Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))
Uncertain significance
(Jun 28, 2017)
unknownclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Counsyl, SCV000792519.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023