NM_001042681.2(RERE):c.3570GGAGCG[2] (p.1192RE[4]) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:: Jan 15, 2024
Review status:: criteria provided, conflicting classifications

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:: RCV002181181.20

Allele description [Variation Report for NM_001042681.2(RERE):c.3570GGAGCG[2] (p.1192RE[4])]

NM_001042681.2(RERE):c.3570GGAGCG[2] (p.1192RE[4])

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

1p36.23

Genomic location:

Preferred name:

NM_001042681.2(RERE):c.3570GGAGCG[2] (p.1192RE[4])

HGVS:

NC_000001.11:g.8359795CGCTCC[2]
NG_047035.1:g.462880GGAGCG[2]
NM_001042681.2:c.3570GGAGCG[2]MANE SELECT
NM_001042682.2:c.1908GGAGCG[2]
NM_012102.4:c.3570GGAGCG[2]
NP_001036146.1:p.1192RE[4]
NP_001036147.1:p.638RE[4]
NP_036234.3:p.1192RE[4]
NC_000001.10:g.8419855CGCTCC[2]
NC_000001.10:g.8419855_8419860del
NM_012102.3:c.3582_3587del
NM_012102.3:c.3582_3587del6

Links:

dbSNP: rs201570536

NCBI 1000 Genomes Browser:

rs201570536

Molecular consequence:

NM_001042681.2:c.3570GGAGCG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001042682.2:c.1908GGAGCG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_012102.4:c.3570GGAGCG[2] - inframe_deletion - [Sequence Ontology: SO:0001822]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Mesosutterella multiformis strain C6-BN-3-4 16S ribosomal RNA gene, partial sequ...
Mesosutterella multiformis strain C6-BN-3-4 16S ribosomal RNA gene, partial sequence
gi|2792875544|gb|PQ236861.1|

Nucleotide
Mesosutterella multiformis strain C6-BN-3-52 16S ribosomal RNA gene, partial seq...
Mesosutterella multiformis strain C6-BN-3-52 16S ribosomal RNA gene, partial sequence
gi|2792875547|gb|PQ236864.1|

Nucleotide
Homo sapiens chromosome 19, cosmid F15472, complete sequence
Homo sapiens chromosome 19, cosmid F15472, complete sequence
gi|3845348|gnl|LLNL-HGS|BBZ|gb|AC00 1|

Nucleotide
Mus musculus DNA segment, Chr 1, Brigham & Women's Genetics 0212 expressed, mRNA...
Mus musculus DNA segment, Chr 1, Brigham & Women's Genetics 0212 expressed, mRNA (cDNA clone MGC:61254 IMAGE:6401756), complete cds
gi|29294708|gb|BC049091.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002478826	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Jan 15, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002525239	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jun 1, 2022)	germline	clinical testing	Citation Link,
SCV004009723	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Aug 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002478826

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Jan 15, 2024)

germline

clinical testing

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

SCV002525239

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jun 1, 2022)

germline

clinical testing

Citation Link,

SCV004009723

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely benign
(Aug 1, 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	yes	9	not provided	not provided	not provided	not provided	clinical testing
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, SCV002478826.3

#	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

From GeneDx, SCV002525239.2

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

Description

In-frame deletion of 2 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV004009723.10

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	9	not provided	not provided	clinical testing	not provided

Description

RERE: PM4, BS1

#	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		9	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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