NM_003571.4(BFSP2):c.694GAA[1] (p.Glu233del) AND Cataract 12 multiple types

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: May 6, 2022
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:: RCV000006962.7

Allele description [Variation Report for NM_003571.4(BFSP2):c.694GAA[1] (p.Glu233del)]

NM_003571.4(BFSP2):c.694GAA[1] (p.Glu233del)

Genes:

BFSP2-AS1:BFSP2 antisense RNA 1 [Gene - HGNC]
BFSP2:beaded filament structural protein 2 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

3q22.1

Genomic location:

Preferred name:

NM_003571.4(BFSP2):c.694GAA[1] (p.Glu233del)

Other names:

E233delE

HGVS:

NC_000003.12:g.133448610GAA[1]
NG_012425.1:g.53665GAA[1]
NM_003571.4:c.694GAA[1]MANE SELECT
NP_003562.1:p.Glu233del
NC_000003.11:g.133167452_133167454del
NC_000003.11:g.133167454GAA[1]
NM_003571.2:c.697_699delGAA
NM_003571.3:c.697_699del
NM_003571.3:c.697_699delGAA

Links:

OMIM: 603212.0002; dbSNP: rs121908938

NCBI 1000 Genomes Browser:

rs121908938

Molecular consequence:

NM_003571.4:c.694GAA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Cataract 12 multiple types
Identifiers:: MONDO: MONDO:0012701; MedGen: C3808115; Orphanet: 91492; OMIM: 611597

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000027158	OMIM	no assertion criteria provided	Pathogenic (Nov 17, 2004)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 10634598, 10739768, 15570218
SCV003525361	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (May 6, 2022)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 15570218, 27628848, 29914532, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000027158

OMIM

no assertion criteria provided

Pathogenic
(Nov 17, 2004)

germline

literature only

PubMed (3)
[See all records that cite these PMIDs]

SCV003525361

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(May 6, 2022)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

A new locus for autosomal dominant congenital cataracts maps to chromosome 3.

Kramer PL, LaMorticella D, Schilling K, Billingslea AM, Weleber RG, Litt M.

Invest Ophthalmol Vis Sci. 2000 Jan;41(1):36-9.

PubMed [citation]

PMID:: 10634598

Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2.

Jakobs PM, Hess JF, FitzGerald PG, Kramer P, Weleber RG, Litt M.

Am J Hum Genet. 2000 Apr;66(4):1432-6. Epub 2000 Mar 16.

PubMed [citation]

PMID:: 10739768
PMCID:: PMC1288210

See all PubMed Citations (6)

Details of each submission

From OMIM, SCV000027158.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

Description

In a family with congenital cataracts (CTRCT12; 611597) previously described by Kramer et al. (2000), Jakobs et al. (2000) identified a 3-bp deletion (696_698delGAA) in the coding sequence of the BFSP2 gene. This resulted in an in-frame deletion of glutamic acid residue 233 (E233del). Affected members of the family had congenital nuclear, sutural, and stellate or spoke-like cortical cataracts that varied in severity among different individuals.

In 12 affected individuals of a 4-generation Han Chinese pedigree with Y-sutural cataract and myopia, Zhang et al. (2004) identified heterozygosity for the E233del mutation in exon 3 of the BFSP2 gene. Affected individuals also developed slowly progressive punctate cortical opacities in their third decade or later. The mutation was not found in 12 unaffected members of the family or in 384 unrelated Han Chinese control chromosomes.

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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003525361.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This variant is present in population databases (rs776669908, gnomAD 0.0009%). This variant, c.697_699del, results in the deletion of 1 amino acid(s) of the BFSP2 protein (p.Glu233del), but otherwise preserves the integrity of the reading frame. This variant has been observed in individuals with autosomal dominant congenital cataract (PMID: 15570218, 27628848, 29914532; Invitae). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. This variant is also known as 696_698del (deltaE233).

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

Last Updated: Oct 8, 2024

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