ENST00000654303.1:n.25_32dupGGGGCTCC

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBA1

The ENST00000654303.1(CA3-AS1):​n.25_32dupGGGGCTCC variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.502 in 231,744 control chromosomes in the GnomAD database, including 33,341 homozygotes. Variant has been reported in ClinVar as Benign (★).

Frequency

Genomes: 𝑓 0.57 ( 24746 hom., cov: 0)
Exomes 𝑓: 0.38 ( 8595 hom. )

Consequence

CA3-AS1
ENST00000654303.1 non_coding_transcript_exon

Scores

Not classified

Clinical Significance

Benign criteria provided, single submitter B:1

Conservation

PhyloP100: 0.00800
Variant links:
Genes affected
CA3-AS1 (HGNC:51657): (CA3 antisense RNA 1)
CA2 (HGNC:1373): (carbonic anhydrase 2) The protein encoded by this gene is one of several isozymes of carbonic anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -10 ACMG points.

BP6
Variant 8-85463769-A-AGGAGCCCC is Benign according to our data. Variant chr8-85463769-A-AGGAGCCCC is described in ClinVar as [Benign]. Clinvar id is 1225462.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.626 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
CA3-AS1NR_121630.1 linkn.334+805_334+812dupGGGGCTCC intron_variant Intron 1 of 2
CA3-AS1NR_121631.1 linkn.106+451_106+458dupGGGGCTCC intron_variant Intron 1 of 2
CA2NM_000067.3 linkc.-313_-312insGGAGCCCC upstream_gene_variant ENST00000285379.10 NP_000058.1 P00918V9HW21
CA2NM_001293675.2 linkc.-497_-496insGGAGCCCC upstream_gene_variant NP_001280604.1 V9HW21

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
CA2ENST00000285379.10 linkc.-313_-312insGGAGCCCC upstream_gene_variant 1 NM_000067.3 ENSP00000285379.4 P00918

Frequencies

GnomAD3 genomes
AF:
0.574
AC:
84047
AN:
146442
Hom.:
24730
Cov.:
0
show subpopulations
Gnomad AFR
AF:
0.633
Gnomad AMI
AF:
0.497
Gnomad AMR
AF:
0.524
Gnomad ASJ
AF:
0.557
Gnomad EAS
AF:
0.387
Gnomad SAS
AF:
0.390
Gnomad FIN
AF:
0.693
Gnomad MID
AF:
0.638
Gnomad NFE
AF:
0.560
Gnomad OTH
AF:
0.587
GnomAD4 exome
AF:
0.380
AC:
32354
AN:
85216
Hom.:
8595
AF XY:
0.367
AC XY:
17148
AN XY:
46706
show subpopulations
Gnomad4 AFR exome
AF:
0.356
Gnomad4 AMR exome
AF:
0.200
Gnomad4 ASJ exome
AF:
0.306
Gnomad4 EAS exome
AF:
0.0666
Gnomad4 SAS exome
AF:
0.308
Gnomad4 FIN exome
AF:
0.483
Gnomad4 NFE exome
AF:
0.424
Gnomad4 OTH exome
AF:
0.382
GnomAD4 genome
AF:
0.574
AC:
84090
AN:
146528
Hom.:
24746
Cov.:
0
AF XY:
0.576
AC XY:
41147
AN XY:
71450
show subpopulations
Gnomad4 AFR
AF:
0.632
Gnomad4 AMR
AF:
0.524
Gnomad4 ASJ
AF:
0.557
Gnomad4 EAS
AF:
0.387
Gnomad4 SAS
AF:
0.390
Gnomad4 FIN
AF:
0.693
Gnomad4 NFE
AF:
0.560
Gnomad4 OTH
AF:
0.587

ClinVar

Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link

Submissions by phenotype

not provided Benign:1
Jan 11, 2020
GeneDx
Significance: Benign
Review Status: criteria provided, single submitter
Collection Method: clinical testing

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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

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs77895131; hg19: chr8-86375998; API