NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 14, 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:: RCV000666616.1

Allele description [Variation Report for NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn)]

NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn)

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.6028G>A (p.Asp2010Asn)

HGVS:

NC_000011.10:g.77208780G>A
NG_009086.2:g.85535G>A
NM_000260.4:c.6028G>AMANE SELECT
NM_001127180.2:c.5914G>A
NM_001369365.1:c.5881G>A
NP_000251.3:p.Asp2010Asn
NP_001120652.1:p.Asp1972Asn
NP_001356294.1:p.Asp1961Asn
LRG_1420t1:c.6028G>A
LRG_1420:g.85535G>A
LRG_1420p1:p.Asp2010Asn
NC_000011.9:g.76919825G>A
NG_009086.1:g.85516G>A
NM_000260.3:c.6028G>A

Protein change:

D1961N

Links:

dbSNP: rs755934966

NCBI 1000 Genomes Browser:

rs755934966

Molecular consequence:

NM_000260.4:c.6028G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127180.2:c.5914G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369365.1:c.5881G>A - missense variant - [Sequence Ontology: SO:0001583]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000790936	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Apr 14, 2017)	unknown	clinical testing	PubMed (5) [See all records that cite these PMIDs] 24618850, 27610647, 27729122, 27460420, 19074810 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000790936

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(Apr 14, 2017)

unknown

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.

Yoshimura H, Iwasaki S, Nishio SY, Kumakawa K, Tono T, Kobayashi Y, Sato H, Nagai K, Ishikawa K, Ikezono T, Naito Y, Fukushima K, Oshikawa C, Kimitsuki T, Nakanishi H, Usami S.

PLoS One. 2014;9(3):e90688. doi: 10.1371/journal.pone.0090688.

PubMed [citation]

PMID:: 24618850
PMCID:: PMC3949687

Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss.

Chen S, Dong C, Wang Q, Zhong Z, Qi Y, Ke X, Liu Y.

Genet Test Mol Biomarkers. 2016 Nov;20(11):660-665. Epub 2016 Sep 9.

PubMed [citation]

PMID:: 27610647

See all PubMed Citations (5)

Details of each submission

From Counsyl, SCV000790936.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 20, 2024

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