NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Oct 31, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000765012.1

Allele description [Variation Report for NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln)]

NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln)

Gene:
MYO7A:myosin VIIA [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.5
Genomic location:
Preferred name:
NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln)
HGVS:
  • NC_000011.10:g.77156070G>A
  • NG_009086.1:g.32807G>A
  • NG_009086.2:g.32825G>A
  • NM_000260.4:c.449G>AMANE SELECT
  • NM_001127180.2:c.449G>A
  • NM_001369365.1:c.416G>A
  • NP_000251.3:p.Arg150Gln
  • NP_001120652.1:p.Arg150Gln
  • NP_001356294.1:p.Arg139Gln
  • LRG_1420t1:c.449G>A
  • LRG_1420:g.32825G>A
  • LRG_1420p1:p.Arg150Gln
  • NC_000011.9:g.76867116G>A
  • NM_000260.3:c.449G>A
  • c.449G>A
Protein change:
R139Q
Links:
dbSNP: rs202245413
NCBI 1000 Genomes Browser:
rs202245413
Molecular consequence:
  • NM_000260.4:c.449G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127180.2:c.449G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369365.1:c.416G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Deafness, autosomal dominant 11 (DFNA11)
Identifiers:
MONDO: MONDO:0011032; MedGen: C1832475; Orphanet: 90635; OMIM: 601317
Name:
Deafness, autosomal recessive 2 (DFNB2)
Synonyms:
NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2
Identifiers:
MONDO: MONDO:0010807; MedGen: C1838701; Orphanet: 90636; OMIM: 600060
Name:
Usher syndrome type 1 (USH1)
Synonyms:
Usher syndrome, type I, French variety; Retinitis pigmentosa and congenital deafness
Identifiers:
MONDO: MONDO:0010168; MedGen: C1568247; Orphanet: 231169; Orphanet: 886; OMIM: 276900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000896196Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Uncertain significance
(Oct 31, 2018)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

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 Fulgent Genetics,Fulgent Genetics, SCV000896196.1

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

Last Updated: Nov 27, 2021

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