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NM_000260.4(MYO7A):c.1554+8G>A AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 20, 2015
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:
RCV000036054.11

Allele description [Variation Report for NM_000260.4(MYO7A):c.1554+8G>A]

NM_000260.4(MYO7A):c.1554+8G>A

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.1554+8G>A
HGVS:
  • NC_000011.10:g.77162338G>A
  • NG_009086.2:g.39093G>A
  • NM_000260.4:c.1554+8G>AMANE SELECT
  • NM_001127180.2:c.1554+8G>A
  • NM_001369365.1:c.1521+8G>A
  • LRG_1420t1:c.1554+8G>A
  • LRG_1420:g.39093G>A
  • NC_000011.9:g.76873384G>A
  • NG_009086.1:g.39075G>A
  • NM_000260.3:c.1554+8G>A
  • c.1554+8G>A
Links:
dbSNP: rs111033227
NCBI 1000 Genomes Browser:
rs111033227
Molecular consequence:
  • NM_000260.4:c.1554+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001127180.2:c.1554+8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369365.1:c.1521+8G>A - intron variant - [Sequence Ontology: SO:0001627]
Observations:
14

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000059706Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Benign
(Apr 20, 2015) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided1414not providednot providednot providedclinical testing

Citations

PubMed

Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.

Jaijo T, Aller E, Oltra S, Beneyto M, Nájera C, Ayuso C, Baiget M, Carballo M, Antiñolo G, Valverde D, Moreno F, Vilela C, Perez-Garrigues H, Navea A, Millán JM.

Hum Mutat. 2006 Mar;27(3):290-1.

PubMed [citation]
PMID:
16470552

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, SCV000059706.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided14not providednot providedclinical testing PubMed (2)

Description

c.1554+8G>A in intron 13 of MYO7A: This variant is not expected to have clinical significance because it is not located within the conserved region of the splic e consensus sequence and has been identified in 1.7% (5/298) of Finnish chromoso mes and in 0.4% (33/8958) of European chromosomes by the Exome Aggregation Conso rtium (ExAC, http://exac.broadinstitute.org; dbSNP rs111033227.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided14not provided14not provided

Last Updated: Oct 20, 2024