16-10183567-GACACACACACACACACAC-GACACACACACACACACACACACACACACACACACACACACACACAC

Variant summary

Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2

No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.0021 ( 7 hom., cov: 0)

Consequence

Unknown

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 1.32
Variant links:

Genome browser will be placed here

ACMG classification

Verdict is Likely_benign. Variant got -4 ACMG points.

BS2
High Homozygotes in GnomAd4 at 7 gene

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt

Frequencies

GnomAD3 genomes
AF:
0.00206
AC:
259
AN:
125444
Hom.:
7
Cov.:
0
show subpopulations
Gnomad AFR
AF:
0.00470
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.00110
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.000246
Gnomad SAS
AF:
0.000908
Gnomad FIN
AF:
0.00
Gnomad MID
AF:
0.00388
Gnomad NFE
AF:
0.00145
Gnomad OTH
AF:
0.000597
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.00206
AC:
259
AN:
125508
Hom.:
7
Cov.:
0
AF XY:
0.00224
AC XY:
133
AN XY:
59428
show subpopulations
Gnomad4 AFR
AF:
0.00468
Gnomad4 AMR
AF:
0.00110
Gnomad4 ASJ
AF:
0.00
Gnomad4 EAS
AF:
0.000247
Gnomad4 SAS
AF:
0.000912
Gnomad4 FIN
AF:
0.00
Gnomad4 NFE
AF:
0.00145
Gnomad4 OTH
AF:
0.000589

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

LitVar

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

Other links and lift over

dbSNP: rs3219790; hg19: chr16-10277424; API