1-236793823-G-T

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 0.35 in 151,320 control chromosomes in the GnomAD database, including 9,945 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 0.35 ( 9945 hom., cov: 30)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.349
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=-0.62).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.407 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:
0.350
AC:
52866
AN:
151206
Hom.:
9942
Cov.:
30
show subpopulations
Gnomad AFR
AF:
0.205
Gnomad AMI
AF:
0.564
Gnomad AMR
AF:
0.408
Gnomad ASJ
AF:
0.318
Gnomad EAS
AF:
0.420
Gnomad SAS
AF:
0.325
Gnomad FIN
AF:
0.446
Gnomad MID
AF:
0.324
Gnomad NFE
AF:
0.405
Gnomad OTH
AF:
0.349
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.350
AC:
52895
AN:
151320
Hom.:
9945
Cov.:
30
AF XY:
0.352
AC XY:
26005
AN XY:
73924
show subpopulations
Gnomad4 AFR
AF:
0.205
Gnomad4 AMR
AF:
0.408
Gnomad4 ASJ
AF:
0.318
Gnomad4 EAS
AF:
0.421
Gnomad4 SAS
AF:
0.327
Gnomad4 FIN
AF:
0.446
Gnomad4 NFE
AF:
0.405
Gnomad4 OTH
AF:
0.346
Alfa
AF:
0.362
Hom.:
3884
Bravo
AF:
0.343
Asia WGS
AF:
0.365
AC:
1267
AN:
3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.62
CADD
Benign
9.0
DANN
Benign
0.79

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: rs16834388; hg19: chr1-236957123; API