1-109278685-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 0.638 in 152,220 control chromosomes in the GnomAD database, including 34,988 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 0.64 ( 34988 hom., cov: 34)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.00800
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=-0.81).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.901 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:
0.638
AC:
97022
AN:
152102
Hom.:
34988
Cov.:
34
show subpopulations
Gnomad AFR
AF:
0.276
Gnomad AMI
AF:
0.660
Gnomad AMR
AF:
0.735
Gnomad ASJ
AF:
0.827
Gnomad EAS
AF:
0.923
Gnomad SAS
AF:
0.746
Gnomad FIN
AF:
0.775
Gnomad MID
AF:
0.851
Gnomad NFE
AF:
0.773
Gnomad OTH
AF:
0.684
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.638
AC:
97042
AN:
152220
Hom.:
34988
Cov.:
34
AF XY:
0.641
AC XY:
47737
AN XY:
74434
show subpopulations
Gnomad4 AFR
AF:
0.276
Gnomad4 AMR
AF:
0.735
Gnomad4 ASJ
AF:
0.827
Gnomad4 EAS
AF:
0.923
Gnomad4 SAS
AF:
0.746
Gnomad4 FIN
AF:
0.775
Gnomad4 NFE
AF:
0.773
Gnomad4 OTH
AF:
0.687
Alfa
AF:
0.638
Hom.:
5664
Bravo
AF:
0.618
Asia WGS
AF:
0.789
AC:
2745
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.81
CADD
Benign
4.5
DANN
Benign
0.77

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: rs583104; hg19: chr1-109821307; API