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NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) AND Cerebral palsy

Germline classification:
Pathogenic (1 submission)
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:
RCV001293274.8

Allele description [Variation Report for NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)]

NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)

Gene:
RNASEH2B:ribonuclease H2 subunit B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q14.3
Genomic location:
Preferred name:
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
Other names:
NM_001142279.2(RNASEH2B):c.529G>A(p.Ala177Thr); NM_024570.3(RNASEH2B):c.529G>A(p.Ala177Thr)
HGVS:
  • NC_000013.11:g.50945445G>A
  • NG_009055.1:g.40690G>A
  • NM_001142279.2:c.529G>A
  • NM_024570.4:c.529G>AMANE SELECT
  • NP_001135751.1:p.Ala177Thr
  • NP_078846.2:p.Ala177Thr
  • NP_078846.2:p.Ala177Thr
  • LRG_279t1:c.529G>A
  • LRG_279t2:c.529G>A
  • LRG_279:g.40690G>A
  • LRG_279p1:p.Ala177Thr
  • LRG_279p2:p.Ala177Thr
  • NC_000013.10:g.51519581G>A
  • NM_001142279.1:c.529G>A
  • NM_024570.3:c.529G>A
  • Q5TBB1:p.Ala177Thr
Protein change:
A177T; ALA177THR
Links:
UniProtKB: Q5TBB1#VAR_027284; OMIM: 610326.0001; dbSNP: rs75184679
NCBI 1000 Genomes Browser:
rs75184679
Molecular consequence:
  • NM_001142279.2:c.529G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024570.4:c.529G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
Cerebral palsy
Identifiers:
MONDO: MONDO:0006497; MedGen: C0007789; Human Phenotype Ontology: HP:0100021

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001481865Centre of Medical Genetics, University of Antwerp
no assertion criteria provided
Pathogenicgermlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Citations

PubMed

Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2?

Svingen L, Goheen M, Godfrey R, Wahl C, Baker EH, Gahl WA, Malicdan MCV, Toro C.

Dev Med Child Neurol. 2017 Dec;59(12):1307-1311. doi: 10.1111/dmcn.13509. Epub 2017 Aug 1.

PubMed [citation]
PMID:
28762473
PMCID:
PMC5685901

Diagnosis of Aicardi-Goutières Syndrome in Adults: A Case Series.

Videira G, Malaquias MJ, Laranjinha I, Martins R, Taipa R, Magalhães M.

Mov Disord Clin Pract. 2020 Apr;7(3):303-307. doi: 10.1002/mdc3.12903.

PubMed [citation]
PMID:
32258229
PMCID:
PMC7111574

Details of each submission

From Centre of Medical Genetics, University of Antwerp, SCV001481865.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (2)
21not providednot providedclinical testing PubMed (2)

Description

missense mutation, previously described as pathogenic in the literature and in ClinVar

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 24, 2024