NM_001042681.2(RERE):c.4319A>G (p.Gln1440Arg) AND Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 12, 2017
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:: RCV000681471.1

Allele description [Variation Report for NM_001042681.2(RERE):c.4319A>G (p.Gln1440Arg)]

NM_001042681.2(RERE):c.4319A>G (p.Gln1440Arg)

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.4319A>G (p.Gln1440Arg)

HGVS:

NC_000001.11:g.8358216T>C
NG_047035.1:g.464476A>G
NM_001042681.2:c.4319A>GMANE SELECT
NM_001042682.2:c.2657A>G
NM_012102.4:c.4319A>G
NP_001036146.1:p.Gln1440Arg
NP_001036147.1:p.Gln886Arg
NP_036234.3:p.Gln1440Arg
NC_000001.10:g.8418276T>C
NM_012102.3:c.4319A>G

Protein change:

Q1440R

Links:

dbSNP: rs1321809020

NCBI 1000 Genomes Browser:

rs1321809020

Molecular consequence:

NM_001042681.2:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001042682.2:c.2657A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_012102.4:c.4319A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH)
Identifiers:: MONDO: MONDO:0014857; MedGen: C4310772; OMIM: 616975

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000808921	Daryl Scott Lab, Baylor College of Medicine	criteria provided, single submitter (Jordan VK et al. (Hum Mutat 2018))	Pathogenic (Sep 12, 2017)	de novo	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

SCV000808921

Daryl Scott Lab, Baylor College of Medicine

criteria provided, single submitter

(Jordan VK et al. (Hum Mutat 2018))

Pathogenic
(Sep 12, 2017)

de novo

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	de novo	yes	1	1	not provided	not provided	yes	clinical testing

Citations

PubMed

Genotype-phenotype correlations in individuals with pathogenic RERE variants.

Jordan VK, Fregeau B, Ge X, Giordano J, Wapner RJ, Balci TB, Carter MT, Bernat JA, Moccia AN, Srivastava A, Martin DM, Bielas SL, Pappas J, Svoboda MD, Rio M, Boddaert N, Cantagrel V, Lewis AM, Scaglia F; Undiagnosed Diseases Network., Kohler JN, Bernstein JA, et al.

Hum Mutat. 2018 May;39(5):666-675. doi: 10.1002/humu.23400. Epub 2018 Jan 25.

PubMed [citation]

PMID:: 29330883
PMCID:: PMC5903952

Details of each submission

From Daryl Scott Lab, Baylor College of Medicine, SCV000808921.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	yes	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: Apr 23, 2022

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