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NM_001042681.2(RERE):c.3265C>G (p.Pro1089Ala) AND Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 9, 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:
RCV001839014.1

Allele description [Variation Report for NM_001042681.2(RERE):c.3265C>G (p.Pro1089Ala)]

NM_001042681.2(RERE):c.3265C>G (p.Pro1089Ala)

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.3265C>G (p.Pro1089Ala)
HGVS:
  • NC_000001.11:g.8360242G>C
  • NG_047035.1:g.462450C>G
  • NM_001042681.2:c.3265C>GMANE SELECT
  • NM_001042682.2:c.1603C>G
  • NM_012102.4:c.3265C>G
  • NP_001036146.1:p.Pro1089Ala
  • NP_001036147.1:p.Pro535Ala
  • NP_036234.3:p.Pro1089Ala
  • NC_000001.10:g.8420302G>C
  • NM_012102.3:c.3265C>G
Protein change:
P1089A
Links:
dbSNP: rs1259871272
NCBI 1000 Genomes Browser:
rs1259871272
Molecular consequence:
  • NM_001042681.2:c.3265C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042682.2:c.1603C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012102.4:c.3265C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002099237New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(Apr 9, 2021) 		inheritedclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV002099237.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedunknown1not providednot provided1not providednot providednot provided

Last Updated: Jan 7, 2023