NM_005654.6(NR2F1):c.442A>T (p.Lys148Ter) AND Bosch-Boonstra-Schaaf optic atrophy syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 16, 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:: RCV002795906.2

Allele description [Variation Report for NM_005654.6(NR2F1):c.442A>T (p.Lys148Ter)]

NM_005654.6(NR2F1):c.442A>T (p.Lys148Ter)

Genes:

NR2F1-AS1:NR2F1 antisense RNA 1 [Gene - HGNC]
NR2F1:nuclear receptor subfamily 2 group F member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q15

Genomic location:

Preferred name:

NM_005654.6(NR2F1):c.442A>T (p.Lys148Ter)

HGVS:

NC_000005.10:g.93585465A>T
NG_034119.1:g.7129A>T
NM_005654.6:c.442A>TMANE SELECT
NP_005645.1:p.Lys148Ter
NC_000005.9:g.92921171A>T

Protein change:

K148*

Molecular consequence:

NM_005654.6:c.442A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS)
Identifiers:: MONDO: MONDO:0014320; MedGen: C3810363; Orphanet: 401777; OMIM: 615722

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003035394	Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	criteria provided, single submitter (ACGS Guidelines, 2020)	Pathogenic (Jan 16, 2023)	de novo	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003035394

Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

criteria provided, single submitter

(ACGS Guidelines, 2020)

Pathogenic
(Jan 16, 2023)

de novo

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues, SCV003035394.1

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

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

Last Updated: Feb 4, 2024

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