NM_206933.4(USH2A):c.2510G>A (p.Arg837Gln) AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 31, 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:: RCV000881023.8

Allele description [Variation Report for NM_206933.4(USH2A):c.2510G>A (p.Arg837Gln)]

NM_206933.4(USH2A):c.2510G>A (p.Arg837Gln)

Genes:

LOC122152296:Sharpr-MPRA regulatory region 8762 [Gene]
USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.2510G>A (p.Arg837Gln)

HGVS:

NC_000001.11:g.216246884C>T
NG_009497.2:g.181565G>A
NM_007123.6:c.2510G>A
NM_206933.4:c.2510G>AMANE SELECT
NP_009054.6:p.Arg837Gln
NP_996816.3:p.Arg837Gln
NC_000001.10:g.216420226C>T
NG_009497.1:g.181513G>A
NM_007123.5:c.2510G>A
NM_206933.2:c.2510G>A

Protein change:

R837Q

Links:

dbSNP: rs148594393

NCBI 1000 Genomes Browser:

rs148594393

Molecular consequence:

NM_007123.6:c.2510G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_206933.4:c.2510G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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myc-associated zinc finger protein isoform 1 [Mus musculus]
myc-associated zinc finger protein isoform 1 [Mus musculus]
gi|114155153|ref|NP_034902.1|

Protein
Drug Overdose
Drug Overdose
Accidental or deliberate use of a medication or street drug in excess of normal dosage.<br/>Year introduced: 2013

MeSH
D062787 (1)
MeSH
Hemic and Lymphatic Diseases
Hemic and Lymphatic Diseases
Hematologic diseases and diseases of the lymphatic system collectively. Hemic diseases include disorders involving the formed elements (e.g., ERYTHROCYTE AGGREGATION, INTRAVAS...<br/>Year introduced: 1998

MeSH
RecName: Full=Myomegalin; AltName: Full=Cardiomyopathy-associated protein 2; Alt...
RecName: Full=Myomegalin; AltName: Full=Cardiomyopathy-associated protein 2; AltName: Full=Phosphodiesterase 4D-interacting protein
gi|1375381529|sp|Q5VU43.3|MYOME_HUM

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001024160	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Jan 31, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001024160

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Jan 31, 2024)

germline

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001024160.5

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

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

Last Updated: Sep 29, 2024

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