NM_000260.3(MYO7A):c.4996A>T (p.Ser1666Cys) AND not specified

Clinical significance:Benign (Last evaluated: Jun 22, 2014)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000036174.4

Allele description [Variation Report for NM_000260.3(MYO7A):c.4996A>T (p.Ser1666Cys)]

NM_000260.3(MYO7A):c.4996A>T (p.Ser1666Cys)

Gene:
MYO7A:myosin VIIA [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.5
Genomic location:
Preferred name:
NM_000260.3(MYO7A):c.4996A>T (p.Ser1666Cys)
HGVS:
  • NC_000011.10:g.77201591A>T
  • NG_009086.1:g.78327A>T
  • NM_000260.3:c.4996A>T
  • NP_000251.3:p.Ser1666Cys
  • NC_000011.9:g.76912636A>T
  • Q13402:p.Ser1666Cys
  • c.4996A>T
Protein change:
S1666C
Links:
UniProtKB: Q13402#VAR_009343; dbSNP: rs2276288
GMAF:
0.4483(A), 2276288
NCBI 1000 Genomes Browser:
rs2276288
Allele Frequency:
0.5891, GO-ESP
Molecular consequence:
  • NM_000260.3:c.4996A>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1538

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
SCV000059826Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(Mar 8, 2007)
germlineclinical testing

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

SCV000229810EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Jun 22, 2014)
germlineclinical testing

Citation Link,

SCV000303301PreventionGenetics,PreventionGeneticscriteria provided, single submitter
Benigngermlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided15621538not 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

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,Partners HealthCare Personalized Medicine, SCV000059826.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1562not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1562not provided1538not provided

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000229810.4

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

From PreventionGenetics,PreventionGenetics, SCV000303301.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2018