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NM_213599.3(ANO5):c.1630+2T>G AND Autosomal recessive limb-girdle muscular dystrophy type 2L

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 3, 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:
RCV001004964.2

Allele description [Variation Report for NM_213599.3(ANO5):c.1630+2T>G]

NM_213599.3(ANO5):c.1630+2T>G

Gene:
ANO5:anoctamin 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p14.3
Genomic location:
Preferred name:
NM_213599.3(ANO5):c.1630+2T>G
HGVS:
  • NC_000011.10:g.22259743T>G
  • NG_015844.1:g.71568T>G
  • NM_001142649.2:c.1627+2T>G
  • NM_001410963.1:c.1588+2T>G
  • NM_001410964.1:c.1585+2T>G
  • NM_213599.3:c.1630+2T>GMANE SELECT
  • LRG_868:g.71568T>G
  • NC_000011.9:g.22281289T>G
  • NC_000011.9:g.22281289T>G
Links:
dbSNP: rs1590300702
NCBI 1000 Genomes Browser:
rs1590300702
Molecular consequence:
  • NM_001142649.2:c.1627+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001410963.1:c.1588+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001410964.1:c.1585+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_213599.3:c.1630+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Autosomal recessive limb-girdle muscular dystrophy type 2L (LGMDR12)
Synonyms:
Limb-girdle muscular dystrophy, type 2L; MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12
Identifiers:
MONDO: MONDO:0012652; MedGen: C1969785; Orphanet: 206549; OMIM: 611307

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001164502Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Dec 3, 2018) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

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 Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, SCV001164502.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)

Description

The homozygous c.1630+2T>G variant in ANO5 was identified by our study in one individual with limb-girdle muscular dystrophy (LGMD). This variant was absent from large population studies. The c.1630+2T>G variant occurs in the invariant region (+/- 1/2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. However, this information is not predictive enough to determine pathogenicity. Loss of function of the ANO5 gene is an established disease mechanism in autosomal recessive LGMD. In summary, although additional studies are required to fully establish its clinical significance, the c.1630+2T>G variant is likely pathogenic. ACMG/AMP Criteria applied: PM2, PVS1 (Richards 2015).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024