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NM_000260.4(MYO7A):c.486_593-20delinsAG AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 27, 2021
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:
RCV001958965.5

Allele description [Variation Report for NM_000260.4(MYO7A):c.486_593-20delinsAG]

NM_000260.4(MYO7A):c.486_593-20delinsAG

Gene:
MYO7A:myosin VIIA [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
11q13.5
Genomic location:
Preferred name:
NM_000260.4(MYO7A):c.486_593-20delinsAG
HGVS:
  • NC_000011.10:g.77156675_77156842delinsAG
  • NG_009086.2:g.33430_33597delinsAG
  • NM_000260.4:c.486_593-20delinsAGMANE SELECT
  • NM_001127180.2:c.486_593-20delinsAG
  • NM_001369365.1:c.453_560-20delinsAG
  • LRG_1420t1:c.486_593-20delinsAG
  • LRG_1420:g.33430_33597delinsAG
  • NC_000011.9:g.76867721_76867888delinsAG
Links:
dbSNP: rs2135235196
NCBI 1000 Genomes Browser:
rs2135235196
Molecular consequence:
  • NM_000260.4:c.486_593-20delinsAG - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001127180.2:c.486_593-20delinsAG - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369365.1:c.453_560-20delinsAG - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002243808Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Feb 27, 2021) 		germlineclinical testing

PubMed (8)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.

Roux AF, Faugère V, Le Guédard S, Pallares-Ruiz N, Vielle A, Chambert S, Marlin S, Hamel C, Gilbert B, Malcolm S, Claustres M; French Usher Syndrome Collaboration..

J Med Genet. 2006 Sep;43(9):763-8. Epub 2006 May 5.

PubMed [citation]
PMID:
16679490
PMCID:
PMC2564578

Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome.

Abdi S, Bahloul A, Behlouli A, Hardelin JP, Makrelouf M, Boudjelida K, Louha M, Cheknene A, Belouni R, Rous Y, Merad Z, Selmane D, Hasbelaoui M, Bonnet C, Zenati A, Petit C.

PLoS One. 2016;11(9):e0161893. doi: 10.1371/journal.pone.0161893.

PubMed [citation]
PMID:
27583663
PMCID:
PMC5008642
See all PubMed Citations (8)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002243808.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)

Description

For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Gly163 amino acid residue in MYO7A. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 16679490, 27583663, 21873662, 31479088). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has not been reported in the literature in individuals with MYO7A-related conditions. This variant is not present in population databases (ExAC no frequency). This variant results in the deletion of part of exon 6 (c.486_593-20delinsAG) of the MYO7A gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MYO7A are known to be pathogenic (PMID: 8900236, 25404053).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024