NM_001371279.1(REEP1):c.-35_-34delinsTT AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Apr 30, 2018
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:: RCV001722403.10

Allele description [Variation Report for NM_001371279.1(REEP1):c.-35_-34delinsTT]

NM_001371279.1(REEP1):c.-35_-34delinsTT

Gene:

REEP1:receptor accessory protein 1 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

2p11.2

Genomic location:

Preferred name:

NM_001371279.1(REEP1):c.-35_-34delinsTT

HGVS:

NC_000002.12:g.86337544_86337545delinsAA
NG_013037.1:g.5539_5540delinsTT
NM_001164730.2:c.53+479_53+480delinsTT
NM_001164731.2:c.-43_-42delinsTT
NM_001164732.2:c.-35_-34delinsTT
NM_001371279.1:c.-35_-34delinsTTMANE SELECT
NM_001371280.1:c.-35_-34delinsTT
NM_022912.3:c.-35_-34delinsTT
LRG_713:g.5539_5540delinsTT
NC_000002.11:g.86564667_86564668delinsAA
NM_022912.2:c.-35_-34delGCinsTT

Links:

dbSNP: rs1064795432

NCBI 1000 Genomes Browser:

rs1064795432

Molecular consequence:

NM_001164731.2:c.-43_-42delinsTT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001164732.2:c.-35_-34delinsTT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001371279.1:c.-35_-34delinsTT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001371280.1:c.-35_-34delinsTT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_022912.3:c.-35_-34delinsTT - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001164730.2:c.53+479_53+480delinsTT - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000571230	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Apr 30, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000571230

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Apr 30, 2018)

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, SCV000571230.6

#	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: Nov 24, 2024

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