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NM_024570.4(RNASEH2B):c.698+5G>A AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 28, 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:
RCV000486862.1

Allele description [Variation Report for NM_024570.4(RNASEH2B):c.698+5G>A]

NM_024570.4(RNASEH2B):c.698+5G>A

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.698+5G>A
HGVS:
  • NC_000013.11:g.50948073G>A
  • NG_009055.1:g.43318G>A
  • NM_001142279.2:c.698+5G>A
  • NM_024570.4:c.698+5G>AMANE SELECT
  • LRG_279t1:c.698+5G>A
  • LRG_279t2:c.698+5G>A
  • LRG_279:g.43318G>A
  • NC_000013.10:g.51522209G>A
  • NM_024570.3:c.698+5G>A
Links:
dbSNP: rs1064797046
NCBI 1000 Genomes Browser:
rs1064797046
Molecular consequence:
  • NM_001142279.2:c.698+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_024570.4:c.698+5G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000574383GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Mar 28, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000574383.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.698+5 G>A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Several in-silico splice prediction models predict that c.698+5 G>A destroys the natural splice donor site of intron 8, leading to the creation of a null allele as the adjacent exon is out of frame. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. In summary, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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

Last Updated: Apr 23, 2022