U.S. flag

An official website of the United States government

NM_001101426.4(CRPPA):c.876A>G (p.Glu292=) AND not provided

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Feb 1, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001532103.17

Allele description [Variation Report for NM_001101426.4(CRPPA):c.876A>G (p.Glu292=)]

NM_001101426.4(CRPPA):c.876A>G (p.Glu292=)

Gene:
CRPPA:CDP-L-ribitol pyrophosphorylase A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p21.2
Genomic location:
Preferred name:
NM_001101426.4(CRPPA):c.876A>G (p.Glu292=)
HGVS:
  • NC_000007.14:g.16278186T>C
  • NG_032690.2:g.148137A>G
  • NM_001101417.4:c.726A>G
  • NM_001101426.4:c.876A>GMANE SELECT
  • NM_001368197.1:c.771A>G
  • NP_001094887.1:p.Glu242=
  • NP_001094896.1:p.Glu292=
  • NP_001355126.1:p.Glu257=
  • NC_000007.13:g.16317811T>C
  • NG_032690.1:g.148137A>G
  • NM_001101426.3:c.876A>G
  • NR_160656.1:n.941A>G
Links:
dbSNP: rs371300262
NCBI 1000 Genomes Browser:
rs371300262
Molecular consequence:
  • NR_160656.1:n.941A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001101417.4:c.726A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001101426.4:c.876A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368197.1:c.771A>G - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000725946GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(Mar 18, 2019)
germlineclinical testing

Citation Link,

SCV001747504CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Likely benign
(Feb 1, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000725946.2

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

From CeGaT Center for Human Genetics Tuebingen, SCV001747504.16

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 17, 2024