Genetic Variant CNGB3:c.211+34_211+35insATAAAAAAAAAAAAAAAAAAAAA (chr8-86739620-G-GTTTTTTTTTTTTTTTTTTTTTAT) – ACMG Classification: Uncertain_significance (0 pts)

Variant summary

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

The NM_019098.5(CNGB3):c.211+34_211+35insATAAAAAAAAAAAAAAAAAAAAA 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: not found (cov: 0)

Exomes 𝑓: 0.0000015 ( 0 hom. )

Consequence

CNGB3
NM_019098.5 intron

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.129

Variant links:

Genes affected

CNGB3 (HGNC:2153): (cyclic nucleotide gated channel subunit beta 3) This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors. This heterotetrameric channel is necessary for sensory transduction, and mutations in this gene have been associated with achromatopsia 3, progressive cone dystrophy, and juvenile macular degeneration, also known as Stargardt Disease. [provided by RefSeq, Feb 2010]

CNGB3 links:

ENSG00000254115 (HGNC:):

ENSG00000254115 links:

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ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
CNGB3	NM_019098.5 link	c.211+34_211+35insATAAAAAAAAAAAAAAAAAAAAA		intron_variant	Intron 2 of 17	ENST00000320005.6	NP_061971.3	Q9NQW8-1

Ensembl

Gene	Transcript	HGVSc	Effect	Exon rank	TSL	MANE	Protein	UniProt
CNGB3	ENST00000320005.6 link	c.211+34_211+35insATAAAAAAAAAAAAAAAAAAAAA	intron_variant	Intron 2 of 17	1	NM_019098.5	ENSP00000316605.5	Q9NQW8-1
ENSG00000254115	ENST00000519041.1 link	n.449-21216_449-21215insTTTTTTTTTTTTTTTTTTTTTAT	intron_variant	Intron 1 of 2	3
CNGB3	ENST00000519777.1 link	n.193+34_193+35insATAAAAAAAAAAAAAAAAAAAAA	intron_variant	Intron 2 of 3	2
CNGB3	ENST00000681746.1 link	n.211+34_211+35insATAAAAAAAAAAAAAAAAAAAAA	intron_variant	Intron 2 of 18			ENSP00000505959.1	A0A5J6DSN8

Frequencies

GnomAD3 genomes

Cov.:

GnomAD4 exome

AF:

0.00000147

AC:

AN:

1360278

Hom.:

Cov.:

AF XY:

0.00000148

AC XY:

AN XY:

676438

show subpopulations

Gnomad4 AFR exome

AF:

0.00

Gnomad4 AMR exome

AF:

0.00

Gnomad4 ASJ exome

AF:

0.00

Gnomad4 EAS exome

AF:

0.00

Gnomad4 SAS exome

AF:

0.00

Gnomad4 FIN exome

AF:

0.00

Gnomad4 NFE exome

AF:

0.00000190

Gnomad4 OTH exome

AF:

0.00

GnomAD4 genome

Cov.:

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

Splicing

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

Publications

No publications associated with this variant yet.

8-86739620-GTTTTTT-GTTTTTTTTTTTTTTTTTTTTTATTTTTTT

Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

ClinVar

Computational scores

Splicing

Publications

Other links and lift over