NM_173689.7(CRB2):c.3699CCT[7] (p.Leu1239dup) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 24, 2023
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:: RCV003355476.2

Allele description [Variation Report for NM_173689.7(CRB2):c.3699CCT[7] (p.Leu1239dup)]

NM_173689.7(CRB2):c.3699CCT[7] (p.Leu1239dup)

Gene:

CRB2:crumbs cell polarity complex component 2 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

9q33.3

Genomic location:

Preferred name:

NM_173689.7(CRB2):c.3699CCT[7] (p.Leu1239dup)

HGVS:

NC_000009.12:g.123376903CCT[7]
NG_051311.1:g.27839CCT[7]
NM_173689.5:c.3714_3716dupCCT
NM_173689.7:c.3699CCT[7]MANE SELECT
NP_775960.4:p.Leu1239dup
NC_000009.11:g.126139181_126139182insCCT
NC_000009.11:g.126139182CCT[7]
NM_173689.6:c.3714_3716dup
NM_173689.6:c.3714_3716dupCCT
NM_173689.7:c.3714_3716dupMANE SELECT
NR_104603.2:n.2813CCT[7]

Links:

dbSNP: rs767432277

NCBI 1000 Genomes Browser:

rs767432277

Molecular consequence:

NM_173689.7:c.3699CCT[7] - inframe_insertion - [Sequence Ontology: SO:0001821]
NR_104603.2:n.2813CCT[7] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004052959	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Aug 24, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004052959

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Aug 24, 2023)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV004052959.2

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

Description

The c.3714_3716dupCCT (p.L1239dup) alteration is located in exon 13 (coding exon 13) of the CRB2 gene. The alteration consists of an in-frame duplication of 3 nucleotides from position 3714 to 3716, resulting in the duplication of 1 residue. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: Nov 3, 2024

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