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NM_016207.4(CPSF3):c.653G>A (p.Arg218Gln) AND Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 28, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003493384.1

Allele description [Variation Report for NM_016207.4(CPSF3):c.653G>A (p.Arg218Gln)]

NM_016207.4(CPSF3):c.653G>A (p.Arg218Gln)

Gene:
CPSF3:cleavage and polyadenylation specific factor 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p25.1
Genomic location:
Preferred name:
NM_016207.4(CPSF3):c.653G>A (p.Arg218Gln)
Other names:
p.R218Q
HGVS:
  • NC_000002.12:g.9436254G>A
  • NM_001321833.2:c.542G>A
  • NM_001321834.2:c.542G>A
  • NM_001321835.2:c.236G>A
  • NM_001321836.2:c.665G>A
  • NM_016207.4:c.653G>AMANE SELECT
  • NP_001308762.1:p.Arg181Gln
  • NP_001308763.1:p.Arg181Gln
  • NP_001308764.1:p.Arg79Gln
  • NP_001308765.1:p.Arg222Gln
  • NP_057291.1:p.Arg218Gln
  • NC_000002.11:g.9576383G>A
Protein change:
R181Q
Molecular consequence:
  • NM_001321833.2:c.542G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321834.2:c.542G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321835.2:c.236G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321836.2:c.665G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016207.4:c.653G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures (NEDMHS)
Identifiers:
MONDO: MONDO:0859250; MedGen: C5676986; OMIM: 619876

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004242196Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN
no assertion criteria provided
Uncertain significance
(Apr 28, 2023)
paternalclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes21not provided2yesclinical testing

Details of each submission

From Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV004242196.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providedyesclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyes2Bloodnot provided2not provided1not provided

Last Updated: Feb 14, 2024