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NM_000260.4(MYO7A):c.285+2T>G AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 20, 2024
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:
RCV002485549.3

Allele description [Variation Report for NM_000260.4(MYO7A):c.285+2T>G]

NM_000260.4(MYO7A):c.285+2T>G

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.285+2T>G
HGVS:
  • NC_000011.10:g.77147952T>G
  • NG_009086.2:g.24707T>G
  • NM_000260.4:c.285+2T>GMANE SELECT
  • NM_001127180.2:c.285+2T>G
  • NM_001369365.1:c.252+2T>G
  • LRG_1420t1:c.285+2T>G
  • LRG_1420:g.24707T>G
  • NC_000011.9:g.76858998T>G
  • NM_000260.3:c.285+2T>G
Links:
dbSNP: rs782292032
NCBI 1000 Genomes Browser:
rs782292032
Molecular consequence:
  • NM_000260.4:c.285+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001127180.2:c.285+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001369365.1:c.252+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Autosomal dominant nonsyndromic hearing loss 11
Synonyms:
Deafness, autosomal dominant 11
Identifiers:
MONDO: MONDO:0011032; MedGen: C1832475; Orphanet: 90635; OMIM: 601317
Name:
Autosomal recessive nonsyndromic hearing loss 2
Synonyms:
DEAFNESS, AUTOSOMAL RECESSIVE 2; NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2
Identifiers:
MONDO: MONDO:0010807; MedGen: C1838701; Orphanet: 90636; OMIM: 600060
Name:
Usher syndrome type 1 (USH1)
Synonyms:
RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS; Usher syndrome, type I, French variety
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
SCV002797151Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 20, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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, SCV002797151.2

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

Last Updated: Mar 22, 2025