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NM_000260.4(MYO7A):c.3504-1G>C AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 19, 2017
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:
RCV000670122.1

Allele description [Variation Report for NM_000260.4(MYO7A):c.3504-1G>C]

NM_000260.4(MYO7A):c.3504-1G>C

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.3504-1G>C
HGVS:
  • NC_000011.10:g.77189343G>C
  • NG_009086.2:g.66098G>C
  • NM_000260.4:c.3504-1G>CMANE SELECT
  • NM_001127180.2:c.3504-1G>C
  • NM_001369365.1:c.3471-1G>C
  • LRG_1420t1:c.3504-1G>C
  • LRG_1420:g.66098G>C
  • NC_000011.9:g.76900388G>C
  • NM_000260.3:c.3504-1G>C
Links:
dbSNP: rs1555090171
NCBI 1000 Genomes Browser:
rs1555090171
Molecular consequence:
  • NM_000260.4:c.3504-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001127180.2:c.3504-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001369365.1:c.3471-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 2
Synonyms:
NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2; Deafness, autosomal recessive 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000794939Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Pathogenic
(Oct 19, 2017) 		unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.

Ouyang XM, Yan D, Du LL, Hejtmancik JF, Jacobson SG, Nance WE, Li AR, Angeli S, Kaiser M, Newton V, Brown SD, Balkany T, Liu XZ.

Hum Genet. 2005 Mar;116(4):292-9. Epub 2005 Jan 20.

PubMed [citation]
PMID:
15660226

Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss.

Shahzad M, Sivakumaran TA, Qaiser TA, Schultz JM, Hussain Z, Flanagan M, Bhinder MA, Kissell D, Greinwald JH Jr, Khan SN, Friedman TB, Zhang K, Riazuddin S, Riazuddin S, Ahmed ZM.

Otolaryngol Head Neck Surg. 2013 Sep;149(3):478-87. doi: 10.1177/0194599813493075. Epub 2013 Jun 14.

PubMed [citation]
PMID:
23770805
PMCID:
PMC4030297
See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000794939.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 20, 2024