NM_001042681.2(RERE):c.3588_3599del (p.1192_1193RE[3]) AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Dec 20, 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:: RCV000963734.8

Allele description [Variation Report for NM_001042681.2(RERE):c.3588_3599del (p.1192_1193RE[3])]

NM_001042681.2(RERE):c.3588_3599del (p.1192_1193RE[3])

Gene:

RERE:arginine-glutamic acid dipeptide repeats [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1p36.23

Genomic location:

Preferred name:

NM_001042681.2(RERE):c.3588_3599del (p.1192_1193RE[3])

HGVS:

NC_000001.11:g.8359794_8359805del
NG_047035.1:g.462898_462909del
NM_001042681.2:c.3588_3599delMANE SELECT
NM_001042682.2:c.1926_1937del
NM_012102.4:c.3588_3599del
NP_001036146.1:p.1192_1193RE[3]
NP_001036147.1:p.638_639RE[3]
NP_036234.3:p.1192_1193RE[3]
NC_000001.10:g.8419843_8419854del
NC_000001.10:g.8419854_8419865del
NM_012102.3:c.3588_3599del
NM_012102.3:c.3588_3599del12

Links:

dbSNP: rs778061502

NCBI 1000 Genomes Browser:

rs778061502

Molecular consequence:

NM_001042681.2:c.3588_3599del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001042682.2:c.1926_1937del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_012102.4:c.3588_3599del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001110906	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Dec 20, 2023)	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

SCV001110906

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Dec 20, 2023)

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, SCV001110906.5

#	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: Oct 13, 2024

ClinVar

Relating variation to medicine