NM_001042681.2(RERE):c.3260C>G (p.Pro1087Arg) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 17, 2021
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:: RCV002771973.2

Allele description [Variation Report for NM_001042681.2(RERE):c.3260C>G (p.Pro1087Arg)]

NM_001042681.2(RERE):c.3260C>G (p.Pro1087Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.23

Genomic location:

Preferred name:

NM_001042681.2(RERE):c.3260C>G (p.Pro1087Arg)

HGVS:

NC_000001.11:g.8360247G>C
NG_047035.1:g.462445C>G
NG_089171.1:g.609G>C
NM_001042681.2:c.3260C>GMANE SELECT
NM_001042682.2:c.1598C>G
NM_012102.4:c.3260C>G
NP_001036146.1:p.Pro1087Arg
NP_001036147.1:p.Pro533Arg
NP_036234.3:p.Pro1087Arg
NC_000001.10:g.8420307G>C
NM_012102.3:c.3260C>G

Protein change:

P1087R

Molecular consequence:

NM_001042681.2:c.3260C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001042682.2:c.1598C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_012102.4:c.3260C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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sister chromatid cohesion protein PDS5 homolog A-B isoform X4 [Momordica charant...
sister chromatid cohesion protein PDS5 homolog A-B isoform X4 [Momordica charantia]
gi|1229751156|ref|XP_022131945.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003583933	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 17, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003583933

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 17, 2021)

germline

clinical testing

Citation Link

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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, SCV003583933.2

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

Description

The c.3260C>G (p.P1087R) alteration is located in exon 19 (coding exon 17) of the RERE gene. This alteration results from a C to G substitution at nucleotide position 3260, causing the proline (P) at amino acid position 1087 to be replaced by an arginine (R). 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: May 1, 2024

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