9-72897384-T-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The variant allele was found at a frequency of 0.229 in 151,948 control chromosomes in the GnomAD database, including 4,416 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.23 ( 4416 hom., cov: 31)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -1.04
Variant links:

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ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.95).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.321 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt

Frequencies

GnomAD3 genomes
AF:
0.229
AC:
34721
AN:
151830
Hom.:
4399
Cov.:
31
show subpopulations
Gnomad AFR
AF:
0.325
Gnomad AMI
AF:
0.208
Gnomad AMR
AF:
0.160
Gnomad ASJ
AF:
0.243
Gnomad EAS
AF:
0.0363
Gnomad SAS
AF:
0.0814
Gnomad FIN
AF:
0.138
Gnomad MID
AF:
0.218
Gnomad NFE
AF:
0.225
Gnomad OTH
AF:
0.219
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.229
AC:
34774
AN:
151948
Hom.:
4416
Cov.:
31
AF XY:
0.220
AC XY:
16328
AN XY:
74266
show subpopulations
Gnomad4 AFR
AF:
0.325
Gnomad4 AMR
AF:
0.160
Gnomad4 ASJ
AF:
0.243
Gnomad4 EAS
AF:
0.0360
Gnomad4 SAS
AF:
0.0807
Gnomad4 FIN
AF:
0.138
Gnomad4 NFE
AF:
0.225
Gnomad4 OTH
AF:
0.216
Alfa
AF:
0.221
Hom.:
5248
Bravo
AF:
0.239
Asia WGS
AF:
0.100
AC:
349
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.95
CADD
Benign
0.21
DANN
Benign
0.57

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: rs348479; hg19: chr9-75512300; API