GeneBe

rs71155213

Variant names:

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

The NM_001297.5(CNGB1):​c.*1357_*1364delAAAAAAAA variant causes a 3 prime UTR 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 0.000066 ( 0 hom., cov: 18)

Consequence

CNGB1
NM_001297.5 3_prime_UTR

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.0770

Publications

0 publications found
Variant links:
Genes affected
CNGB1 (HGNC:2151): (cyclic nucleotide gated channel subunit beta 1) In humans, the rod photoreceptor cGMP-gated cation channel helps regulate ion flow into the rod photoreceptor outer segment in response to light-induced alteration of the levels of intracellular cGMP. This channel consists of two subunits, alpha and beta, with the protein encoded by this gene representing the beta subunit. Defects in this gene are a cause of cause of retinitis pigmentosa type 45. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
CNGB1 Gene-Disease associations (from GenCC):
  • CNGB1-related retinopathy
    Inheritance: AR Classification: DEFINITIVE Submitted by: ClinGen
  • retinitis pigmentosa 45
    Inheritance: AR Classification: DEFINITIVE, STRONG Submitted by: Labcorp Genetics (formerly Invitae), G2P
  • retinitis pigmentosa
    Inheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet

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ACMG classification

Classification was made for transcript

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001297.5. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.
GeneTranscriptTagsHGVScHGVSpEffectExon RankProteinUniProt
CNGB1
NM_001297.5
MANE Select
c.*1357_*1364delAAAAAAAA
3_prime_UTR
Exon 33 of 33NP_001288.3Q14028-1
CNGB1
NM_001286130.2
c.*1357_*1364delAAAAAAAA
3_prime_UTR
Exon 33 of 33NP_001273059.1Q14028-4

Ensembl Transcripts

Sel.
GeneTranscriptTagsHGVScHGVSpEffectExon RankProteinUniProt
CNGB1
ENST00000251102.13
TSL:1 MANE Select
c.*1357_*1364delAAAAAAAA
3_prime_UTR
Exon 33 of 33ENSP00000251102.8Q14028-1

Frequencies

GnomAD3 genomes
AF:
0.0000661
AC:
9
AN:
136066
Hom.:
0
Cov.:
18
show subpopulations
Gnomad AFR
AF:
0.00
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.000667
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.00
Gnomad FIN
AF:
0.00
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.00
Gnomad OTH
AF:
0.00
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.0000661
AC:
9
AN:
136066
Hom.:
0
Cov.:
18
AF XY:
0.000122
AC XY:
8
AN XY:
65572
show subpopulations
African (AFR)
AF:
0.00
AC:
0
AN:
36726
American (AMR)
AF:
0.000667
AC:
9
AN:
13502
Ashkenazi Jewish (ASJ)
AF:
0.00
AC:
0
AN:
3228
East Asian (EAS)
AF:
0.00
AC:
0
AN:
4782
South Asian (SAS)
AF:
0.00
AC:
0
AN:
4310
European-Finnish (FIN)
AF:
0.00
AC:
0
AN:
7516
Middle Eastern (MID)
AF:
0.00
AC:
0
AN:
292
European-Non Finnish (NFE)
AF:
0.00
AC:
0
AN:
62956
Other (OTH)
AF:
0.00
AC:
0
AN:
1904
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.536
Heterozygous variant carriers
0
1
2
2
3
4
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Alfa
AF:
0.00
Hom.:
199
Bravo
AF:
0.0000302

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name
Calibrated prediction
Score
Prediction
PhyloP100
0.077

Splicing

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

Publications

Other links and lift over

dbSNP: rs71155213; hg19: chr16-57916703; API