U.S. flag

An official website of the United States government

NM_005654.6(NR2F1):c.92GCG[8] (p.Gly36_Ala37insGlyGly) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 5, 2023
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:
RCV003062848.2

Allele description

NM_005654.6(NR2F1):c.92GCG[8] (p.Gly36_Ala37insGlyGly)

Genes:
NR2F1-AS1:NR2F1 antisense RNA 1 [Gene - HGNC]
NR2F1:nuclear receptor subfamily 2 group F member 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
5q15
Genomic location:
Preferred name:
NM_005654.6(NR2F1):c.92GCG[8] (p.Gly36_Ala37insGlyGly)
HGVS:
  • NC_000005.10:g.93585115GCG[8]
  • NG_034119.1:g.6779GCG[8]
  • NM_005654.6:c.92GCG[8]MANE SELECT
  • NP_005645.1:p.Gly36_Ala37insGlyGly
  • NC_000005.9:g.92920820_92920821insGCGGCG
  • NC_000005.9:g.92920821GCG[8]
Molecular consequence:
  • NM_005654.6:c.92GCG[8] - inframe_insertion - [Sequence Ontology: SO:0001821]

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
SCV003451784Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Aug 5, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV003451784.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This variant, c.104_109dup, results in the insertion of 2 amino acid(s) of the NR2F1 protein (p.Gly35_Gly36dup), but otherwise preserves the integrity of the reading frame. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with NR2F1-related conditions.

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

Last Updated: Feb 20, 2024