NM_005654.6(NR2F1):c.1165TTC[1] (p.Phe390del) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 5, 2017
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:: RCV000478365.1

Allele description [Variation Report for NM_005654.6(NR2F1):c.1165TTC[1] (p.Phe390del)]

NM_005654.6(NR2F1):c.1165TTC[1] (p.Phe390del)

Gene:

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.1165TTC[1] (p.Phe390del)

HGVS:

NC_000005.10:g.93593735TTC[1]
NG_034119.1:g.15399TTC[1]
NM_005654.6:c.1165TTC[1]MANE SELECT
NP_005645.1:p.Phe390del
NC_000005.9:g.92929441TTC[1]
NM_005654.4:c.1168_1170delTTC

Protein change:

F390del

Links:

dbSNP: rs1064794459

NCBI 1000 Genomes Browser:

rs1064794459

Molecular consequence:

NM_005654.6:c.1165TTC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000569228	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Jan 5, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000569228

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Jan 5, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000569228.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

A variant that is likely pathogenic has been identified in the NR2F1 gene. The c.1168_1170delTTC 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. The c.1168_1170delTTC variant results in an in-frame deletion of a single Phenylalanine residue, denoted p.F390del. This deletion occurs at a position that is conserved across species.

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

Last Updated: Apr 23, 2022

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