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NM_004999.4(MYO6):c.3137+1G>A AND MYO6-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 19, 2023
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:
RCV004534048.1

Allele description [Variation Report for NM_004999.4(MYO6):c.3137+1G>A]

NM_004999.4(MYO6):c.3137+1G>A

Gene:
MYO6:myosin VI [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q14.1
Genomic location:
Preferred name:
NM_004999.4(MYO6):c.3137+1G>A
HGVS:
  • NC_000006.12:g.75895261G>A
  • NG_009934.2:g.151069G>A
  • NM_001300899.2:c.3107+2571G>A
  • NM_001368136.1:c.3107+2571G>A
  • NM_001368137.1:c.3164+1G>A
  • NM_001368138.1:c.3092+2571G>A
  • NM_001368865.1:c.3164+1G>A
  • NM_001368866.1:c.3164+1G>A
  • NM_004999.3:c.3137+1G>A
  • NM_004999.4:c.3137+1G>AMANE SELECT
  • LRG_438t1:c.3137+1G>A
  • LRG_438:g.151069G>A
  • NC_000006.11:g.76604978G>A
Links:
dbSNP: rs200713129
NCBI 1000 Genomes Browser:
rs200713129
Molecular consequence:
  • NM_001300899.2:c.3107+2571G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368136.1:c.3107+2571G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368138.1:c.3092+2571G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368137.1:c.3164+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001368865.1:c.3164+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001368866.1:c.3164+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004999.4:c.3137+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
MYO6-related disorder
Synonyms:
MYO6-Related Disorders; MYO6-related condition
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004114109PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Jan 19, 2023)
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

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 PreventionGenetics, part of Exact Sciences, SCV004114109.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The MYO6 c.3137+1G>A variant is predicted to disrupt the GT donor site and interfere with normal splicing. To our knowledge, this variant has not been reported in the literature. The disruption of this splice donor site may lead to an exon skipping and result in an in-frame deletion of ten amino acids, however no mRNA studies are available to evaluate the actual effect of this variant. This variant is reported in 0.017% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-76604978-G-A) and is interpreted as uncertain significance in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/1723638/). Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Jul 15, 2024