chr3-133449982-A-AAGGAAGG

Variant names:

• chr3-133449982-A-AAGGAAGG
• rs1212404887
• NM_003571.4:c.730-320_730-319insGGAAGGA

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

The NM_003571.4(BFSP2):​c.730-320_730-319insGGAAGGA variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.00051 (1 hom., cov: 0)
• Consequence: BFSP2 NM_003571.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00700

Genes affected

BFSP2 (HGNC:1041): (beaded filament structural protein 2) More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. [provided by RefSeq, Jun 2009]

BFSP2-AS1 (HGNC:28425): (BFSP2 antisense RNA 1)

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
BFSP2	NM_003571.4	c.730-320_730-319insGGAAGGA		intron_variant	Intron 3 of 6	ENST00000302334.3	NP_003562.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
BFSP2	ENST00000302334.3	c.730-321_730-320insAGGAAGG		intron_variant	Intron 3 of 6	1	NM_003571.4	ENSP00000304987.2
BFSP2-AS1	ENST00000515542.1	n.168-1088_168-1087insCCTTCCT		intron_variant	Intron 2 of 4	1
BFSP2	ENST00000511434.1	n.196-321_196-320insAGGAAGG		intron_variant	Intron 1 of 3	3

Frequencies

GnomAD3 genomes AF: 0.000464 AC: 40 AN: 86272 Hom.: 0 Cov.: 0

Gnomad AFR AF: 0.00107

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.000239

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.000719

Gnomad SAS AF: 0.000504

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.000298

Gnomad OTH AF: 0.00

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.000509 AC: 44 AN: 86378 Hom.: 1 Cov.: 0 AF XY: 0.000448 AC XY: 18 AN XY: 40142

Gnomad4 AFR AF: 0.00126

Gnomad4 AMR AF: 0.000239

Gnomad4 ASJ AF: 0.00

Gnomad4 EAS AF: 0.000722

Gnomad4 SAS AF: 0.000501

Gnomad4 FIN AF: 0.00

Gnomad4 NFE AF: 0.000298

Gnomad4 OTH AF: 0.00

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs1212404887; hg19: chr3-133168826;