NM_006397.3(RNASEH2A):c.615T>A (p.Asp205Glu) AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: May 7, 2018
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:: RCV000712932.2

Allele description [Variation Report for NM_006397.3(RNASEH2A):c.615T>A (p.Asp205Glu)]

NM_006397.3(RNASEH2A):c.615T>A (p.Asp205Glu)

Gene:

RNASEH2A:ribonuclease H2 subunit A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.13

Genomic location:

Preferred name:

NM_006397.3(RNASEH2A):c.615T>A (p.Asp205Glu)

HGVS:

NC_000019.10:g.12810382T>A
NG_012662.1:g.8769T>A
NM_006397.3:c.615T>AMANE SELECT
NP_006388.2:p.Asp205Glu
NP_006388.2:p.Asp205Glu
LRG_278t1:c.615T>A
LRG_278:g.8769T>A
LRG_278p1:p.Asp205Glu
NC_000019.9:g.12921196T>A
NM_006397.2:c.615T>A
O75792:p.Asp205Glu

Protein change:

D205E

Links:

UniProtKB: O75792#VAR_070627; dbSNP: rs62619782

NCBI 1000 Genomes Browser:

rs62619782

Molecular consequence:

NM_006397.3:c.615T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000843488	Athena Diagnostics Inc	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (May 7, 2018)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 25500883, 17846997, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000843488

Athena Diagnostics Inc

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(May 7, 2018)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.

Günther C, Kind B, Reijns MA, Berndt N, Martinez-Bueno M, Wolf C, Tüngler V, Chara O, Lee YA, Hübner N, Bicknell L, Blum S, Krug C, Schmidt F, Kretschmer S, Koss S, Astell KR, Ramantani G, Bauerfeind A, Morris DL, Cunninghame Graham DS, Bubeck D, et al.

J Clin Invest. 2015 Jan;125(1):413-24. doi: 10.1172/JCI78001. Epub 2014 Dec 15.

PubMed [citation]

PMID:: 25500883
PMCID:: PMC4382239

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, et al.

Am J Hum Genet. 2007 Oct;81(4):713-25. Epub 2007 Sep 4.

PubMed [citation]

PMID:: 17846997
PMCID:: PMC2227922

See all PubMed Citations (3)

Details of each submission

From Athena Diagnostics Inc, SCV000843488.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

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

Last Updated: Feb 28, 2024

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