U.S. flag

An official website of the United States government

NM_006420.3(ARFGEF2):c.1958+6T>C AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 23, 2016
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:
RCV000438024.1

Allele description [Variation Report for NM_006420.3(ARFGEF2):c.1958+6T>C]

NM_006420.3(ARFGEF2):c.1958+6T>C

Gene:
ARFGEF2:ADP ribosylation factor guanine nucleotide exchange factor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.13
Genomic location:
Preferred name:
NM_006420.3(ARFGEF2):c.1958+6T>C
HGVS:
  • NC_000020.11:g.48976205T>C
  • NG_011490.1:g.59468T>C
  • NG_011490.2:g.59468T>C
  • NM_006420.3:c.1958+6T>CMANE SELECT
  • NC_000020.10:g.47592742T>C
  • NM_006420.2:c.1958+6T>C
Links:
dbSNP: rs770037712
NCBI 1000 Genomes Browser:
rs770037712
Molecular consequence:
  • NM_006420.3:c.1958+6T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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
SCV000528805GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jun 23, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000528805.4

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

Description

The c.1958+6 T>C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Several in-silico splice prediction models predict that c.1958+6 T>C may damage or destroy the natural splice donor site in intron 14 and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: Apr 23, 2022