U.S. flag

An official website of the United States government

NM_018127.7(ELAC2):c.155C>G (p.Ser52Cys) AND not provided

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Feb 10, 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:
RCV000786129.5

Allele description [Variation Report for NM_018127.7(ELAC2):c.155C>G (p.Ser52Cys)]

NM_018127.7(ELAC2):c.155C>G (p.Ser52Cys)

Gene:
ELAC2:elaC ribonuclease Z 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p12
Genomic location:
Preferred name:
NM_018127.7(ELAC2):c.155C>G (p.Ser52Cys)
HGVS:
  • NC_000017.11:g.13017793G>C
  • NG_015808.1:g.5272C>G
  • NM_001165962.2:c.155C>G
  • NM_018127.7:c.155C>GMANE SELECT
  • NM_173717.2:c.155C>G
  • NP_001159434.1:p.Ser52Cys
  • NP_060597.4:p.Ser52Cys
  • NP_776065.1:p.Ser52Cys
  • NC_000017.10:g.12921110G>C
  • NM_018127.6:c.155C>G
Protein change:
S52C
Links:
dbSNP: rs9895963
NCBI 1000 Genomes Browser:
rs9895963
Molecular consequence:
  • NM_001165962.2:c.155C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018127.7:c.155C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_173717.2:c.155C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000924791Stanford Center for Inherited Cardiovascular Disease, Stanford University
no assertion criteria provided
Uncertain significance
(May 24, 2017) 		germlineprovider interpretation

SCV001786457GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Feb 10, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedprovider interpretation

Details of each submission

From Stanford Center for Inherited Cardiovascular Disease, Stanford University, SCV000924791.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedprovider interpretationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV001786457.1

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

Last Updated: May 12, 2024