NM_005654.6(NR2F1):c.452T>A (p.Met151Lys) AND Bosch-Boonstra-Schaaf optic atrophy syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 18, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001270370.2

Allele description [Variation Report for NM_005654.6(NR2F1):c.452T>A (p.Met151Lys)]

NM_005654.6(NR2F1):c.452T>A (p.Met151Lys)

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.452T>A (p.Met151Lys)

HGVS:

NC_000005.10:g.93585475T>A
NG_034119.1:g.7139T>A
NM_005654.6:c.452T>AMANE SELECT
NP_005645.1:p.Met151Lys
NC_000005.9:g.92921181T>A
NM_005654.5:c.452T>A

Protein change:

M151K

Links:

Molecular consequence:

NM_005654.6:c.452T>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001450650	Service de Génétique Moléculaire, Hôpital Robert Debré	no assertion criteria provided	Pathogenic (Sep 18, 2020)	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001450650

Service de Génétique Moléculaire, Hôpital Robert Debré

no assertion criteria provided

Pathogenic
(Sep 18, 2020)

de novo

clinical testing

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 Service de Génétique Moléculaire, Hôpital Robert Debré, SCV001450650.1

#	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: Jun 23, 2024

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