NM_206933.4(USH2A):c.14792-67del AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Aug 8, 2019
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:: RCV001654826.2

Allele description [Variation Report for NM_206933.4(USH2A):c.14792-67del]

NM_206933.4(USH2A):c.14792-67del

Gene:

USH2A:usherin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1q41

Genomic location:

Preferred name:

NM_206933.4(USH2A):c.14792-67del

HGVS:

NC_000001.11:g.215640812del
NG_009497.2:g.787648del
NM_206933.4:c.14792-67delMANE SELECT
NC_000001.10:g.215814154del
NG_009497.1:g.787596del

Links:

dbSNP: rs371387260

NCBI 1000 Genomes Browser:

rs371387260

Molecular consequence:

NM_206933.4:c.14792-67del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein (APBA2BP), transcript variant 1, mRNA
gi|14277701|ref|NM_031231.1|

Nucleotide
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Homo sapiens N-terminal EF-hand calcium binding protein 3 (NECAB3), transcript variant 1, mRNA
gi|1677538297|ref|NM_031231.4|

Nucleotide
Homo sapiens insulinoma-associated 2 (INSM2), mRNA
Homo sapiens insulinoma-associated 2 (INSM2), mRNA
gi|32528302|ref|NM_032594.2|

Nucleotide
dedicator of cytokinesis protein 11 [Mus musculus]
dedicator of cytokinesis protein 11 [Mus musculus]
gi|125660464|ref|NP_001009947.2|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001869238	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Aug 8, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001869238

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Aug 8, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001869238.1

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

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

Last Updated: Dec 24, 2023

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