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NM_016239.4(MYO15A):c.4932G>A (p.Gln1644=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 23, 2016
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:
RCV000602290.4

Allele description [Variation Report for NM_016239.4(MYO15A):c.4932G>A (p.Gln1644=)]

NM_016239.4(MYO15A):c.4932G>A (p.Gln1644=)

Gene:
MYO15A:myosin XVA [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_016239.4(MYO15A):c.4932G>A (p.Gln1644=)
HGVS:
  • NC_000017.11:g.18138171G>A
  • NG_011634.2:g.34466G>A
  • NM_016239.4:c.4932G>AMANE SELECT
  • NP_057323.3:p.Gln1644=
  • NC_000017.10:g.18041485G>A
  • NG_011634.1:g.34466G>A
  • NM_016239.3:c.4932G>A
  • p.Gln1644Gln
Links:
dbSNP: rs773598909
NCBI 1000 Genomes Browser:
rs773598909
Molecular consequence:
  • NM_016239.4:c.4932G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000731292Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Likely benign
(Nov 23, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not 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, SCV000731292.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

p.Gln1644Gln in exon 17 of MYO15A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 5/120618 of the total chromosomes across several populations by the Exome Aggregation Consortiu m (ExAC, http://exac.broadinstitute.org; dbSNP rs773598909).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Sep 29, 2024