NM_017433.5(MYO3A):c.409-21TA[2] AND not specified

Germline classification:: Benign (2 submissions)
Last evaluated:: May 13, 2013
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:: RCV000151456.9

Allele description [Variation Report for NM_017433.5(MYO3A):c.409-21TA[2]]

NM_017433.5(MYO3A):c.409-21TA[2]

Gene:

MYO3A:myosin IIIA [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

10p12.1

Genomic location:

Preferred name:

NM_017433.5(MYO3A):c.409-21TA[2]

HGVS:

NC_000010.10:g.26286067_26286068del
NC_000010.11:g.25997139AT[2]
NG_011635.1:g.68067AT[2]
NM_001368265.1:c.409-21TA[2]
NM_017433.5:c.409-21TA[2]MANE SELECT
LRG_1354t1:c.409-21TA[2]
LRG_1354:g.68067AT[2]
NC_000010.10:g.26286067_26286068del
NC_000010.10:g.26286068AT[2]
NC_000010.10:g.26286072_26286073delAT
NM_017433.4:c.409-16_409-15delAT

Links:

dbSNP: rs112520797

NCBI 1000 Genomes Browser:

rs112520797

Molecular consequence:

NM_001368265.1:c.409-21TA[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_017433.5:c.409-21TA[2] - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000199489	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (May 13, 2013)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000312819	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000199489

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(May 13, 2013)

germline

clinical testing

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

SCV000312819

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	30	30	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

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 Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000199489.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	30	not provided	not provided	clinical testing	PubMed (1)

Description

409-16_409-15delAT in intron 5 of MYO3A: This variant is not expected to have cl inical significance because it has been identified in 5.3% (445/8242) of Europea n American chromosomes and 4.1% (176/4264) of African American chromosomes from a broad population by the NHLBI Exome sequencing project, and 3.1% (69/2178) of chromosomes from the 1000 Genome Project (http://evs.gs.washington.edu/EVS/; dbS NP rs139987960).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		30	not provided	30	not provided

From PreventionGenetics, part of Exact Sciences, SCV000312819.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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