NM_000260.4(MYO7A):c.6614_6634dup (p.Met2205_Ser2211dup) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: May 28, 2016)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000270443.4

Allele description [Variation Report for NM_000260.4(MYO7A):c.6614_6634dup (p.Met2205_Ser2211dup)]

NM_000260.4(MYO7A):c.6614_6634dup (p.Met2205_Ser2211dup)

Gene:
MYO7A:myosin VIIA [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11q13.5
Genomic location:
Preferred name:
NM_000260.4(MYO7A):c.6614_6634dup (p.Met2205_Ser2211dup)
Other names:
p.Ser2211_Arg2212insMetSerLysGlnArgGlySer
HGVS:
  • NC_000011.10:g.77214662_77214682dup
  • NC_000011.9:g.76925703_76925704insCCATGAGCAAACAGCGGGGCT
  • NG_009086.1:g.91398_91418dup
  • NG_009086.2:g.91417_91437dup
  • NM_000260.4:c.6614_6634dupMANE SELECT
  • NM_001127180.2:c.6494_6514dup
  • NM_001369365.1:c.6467_6487dup
  • NP_000251.3:p.Met2205_Ser2211dup
  • NP_001120652.1:p.Met2165_Ser2171dup
  • NP_001356294.1:p.Met2156_Ser2162dup
  • LRG_1420t1:c.6614_6634dup
  • LRG_1420:g.91417_91437dup
  • LRG_1420p1:p.Met2205_Ser2211dup
  • NC_000011.9:g.76925703_76925704insCCATGAGCAAACAGCGGGGCT
  • NC_000011.9:g.76925707_76925727dup
  • NC_000011.9:g.76925727_76925728insTGAGCAAACAGCGGGGCTCCA
  • NM_000260.3:c.6614_6634dup21
Links:
dbSNP: rs111033388
NCBI 1000 Genomes Browser:
rs111033388
Molecular consequence:
  • NM_000260.4:c.6614_6634dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001127180.2:c.6494_6514dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001369365.1:c.6467_6487dup - inframe_insertion - [Sequence Ontology: SO:0001821]
Observations:
3

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
SCV000204117Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(May 28, 2016)
germlineclinical testing

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

SCV000336283EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely benign
(Dec 21, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided33not providednot providednot providedclinical testing
not providedgermlineunknown1not 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, Partners HealthCare Personalized Medicine, SCV000204117.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)

Description

c.6614_6634dup (p.Met2205_Ser221dup) in exon49 of MYO7A: This variant is not exp ected to have clinical significance because it has been identified in 2% (73/340 2) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac .broadinstitute.org; dbSNP rs111033388).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided3not provided3not provided

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000336283.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 6, 2021

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