U.S. flag

An official website of the United States government

NM_004999.4(MYO6):c.1224-4A>G AND not specified

Germline classification:
Benign/Likely benign (3 submissions)
Last evaluated:
Aug 10, 2015
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000038285.13

Allele description [Variation Report for NM_004999.4(MYO6):c.1224-4A>G]

NM_004999.4(MYO6):c.1224-4A>G

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.1224-4A>G
HGVS:
  • NC_000006.12:g.75857093A>G
  • NG_009934.2:g.112901A>G
  • NM_001300899.2:c.1224-4A>G
  • NM_001368136.1:c.1224-4A>G
  • NM_001368137.1:c.1224-4A>G
  • NM_001368138.1:c.1209-4A>G
  • NM_001368865.1:c.1224-4A>G
  • NM_001368866.1:c.1224-4A>G
  • NM_004999.4:c.1224-4A>GMANE SELECT
  • LRG_438t1:c.1224-4A>G
  • LRG_438:g.112901A>G
  • NC_000006.11:g.76566810A>G
  • NG_009934.1:g.112902A>G
  • NM_004999.3:c.1224-4A>G
  • c.1224-4A>G
Links:
dbSNP: rs144031818
NCBI 1000 Genomes Browser:
rs144031818
Molecular consequence:
  • NM_001300899.2:c.1224-4A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368136.1:c.1224-4A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368137.1:c.1224-4A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368138.1:c.1209-4A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368865.1:c.1224-4A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368866.1:c.1224-4A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004999.4:c.1224-4A>G - intron variant - [Sequence Ontology: SO:0001627]
Observations:
12

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000061954Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Benign
(Apr 17, 2012)
germlineclinical testing

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

SCV000225855Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Benign
(Feb 9, 2015)
germlineclinical testing

Citation Link,

SCV000297179Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
criteria provided, single submitter

(DGD Variant Analysis Guidelines)
Likely benign
(Aug 10, 2015)
unknownclinical testing

DGD_Variant_Analysis_Guidelines.docx

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot provided1312not providednot providednot providedclinical testing
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000061954.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided13not providednot providedclinical testing PubMed (1)

Description

1224-4A>G in intron 12 of MYO6: This variant is not expected to have clinical si gnificance because it is not located within the conserved region of the splice c onsensus sequence and has been identified in 0.4% (31/7018) of European American chromosomes and 0.2% (6/3738) of African American chromosomes in a broad popula tion by the NHLBI Exome sequencing project (http://evs.gs.washington.edu/EVS/; d bSNP rs144031818).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided13not provided12not provided

From Eurofins Ntd Llc (ga), SCV000225855.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000297179.3

#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: Feb 28, 2024