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NM_000432.4(MYL2):c.485_487del (p.Gly162del) AND Hypertrophic cardiomyopathy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 2, 2022
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:
RCV002468910.1

Allele description [Variation Report for NM_000432.4(MYL2):c.485_487del (p.Gly162del)]

NM_000432.4(MYL2):c.485_487del (p.Gly162del)

Gene:
MYL2:myosin light chain 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q24.11
Genomic location:
Preferred name:
NM_000432.4(MYL2):c.485_487del (p.Gly162del)
HGVS:
  • NC_000012.12:g.110911092_110911094del
  • NG_007554.1:g.14485_14487del
  • NM_000432.4:c.485_487delMANE SELECT
  • NM_001406745.1:c.442_444delGGA
  • NM_001406746.1:c.442_444delGGA
  • NM_001406916.1:c.427_429delGGA
  • NP_000423.2:p.Gly162del
  • NP_000423.2:p.Gly162del
  • NP_001393674.1:p.Gly148del
  • NP_001393675.1:p.Gly148del
  • NP_001393845.1:p.Gly143del
  • LRG_393t1:c.484_486del
  • LRG_393:g.14485_14487del
  • LRG_393p1:p.Gly162del
  • NC_000012.11:g.111348896_111348898del
  • NM_000432.3:c.484_486delGGA
  • NM_000432.4:c.485_487delGAGMANE SELECT
Protein change:
G143del
Molecular consequence:
  • NM_000432.4:c.485_487del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001406745.1:c.442_444delGGA - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406746.1:c.442_444delGGA - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001406916.1:c.427_429delGGA - inframe_indel - [Sequence Ontology: SO:0001820]
Observations:
1

Condition(s)

Name:
Hypertrophic cardiomyopathy
Synonyms:
HYPERTROPHIC MYOCARDIOPATHY
Identifiers:
MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002762720Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Dec 2, 2022) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot providednot providednot providedclinical testing

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 Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan, SCV002762720.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 26, 2023