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NM_000260.4(MYO7A):c.1554+7C>T AND not specified

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Jan 3, 2017
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000155228.8

Allele description [Variation Report for NM_000260.4(MYO7A):c.1554+7C>T]

NM_000260.4(MYO7A):c.1554+7C>T

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+7C>T
HGVS:
  • NC_000011.10:g.77162337C>T
  • NG_009086.2:g.39092C>T
  • NM_000260.4:c.1554+7C>TMANE SELECT
  • NM_001127180.2:c.1554+7C>T
  • NM_001369365.1:c.1521+7C>T
  • LRG_1420t1:c.1554+7C>T
  • LRG_1420:g.39092C>T
  • NC_000011.9:g.76873383C>T
  • NG_009086.1:g.39074C>T
  • NM_000260.3:c.1554+7C>T
Links:
dbSNP: rs150114658
NCBI 1000 Genomes Browser:
rs150114658
Molecular consequence:
  • NM_000260.4:c.1554+7C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001127180.2:c.1554+7C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369365.1:c.1521+7C>T - intron variant - [Sequence Ontology: SO:0001627]
Observations:
3

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
SCV000204914Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Likely benign
(Jul 21, 2015) 		germlineclinical testing

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

SCV000704072Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Likely benign
(Jan 3, 2017) 		germlineclinical testing

Citation Link

Help

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, Mass General Brigham Personalized Medicine, SCV000204914.4

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

Description

c.1554+7C>T in intron 13 of MYO7A: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus se quence and has been identified in 0.3% (6/2216) of African chromosomes by the Ex ome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs150114 658).

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

From Eurofins Ntd Llc (ga), SCV000704072.2

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

Last Updated: Oct 13, 2024