4-105127203-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 0.744 in 152,034 control chromosomes in the GnomAD database, including 42,381 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 0.74 ( 42381 hom., cov: 33)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.289
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=-0.97).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.825 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:
0.744
AC:
112955
AN:
151916
Hom.:
42323
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.832
Gnomad AMI
AF:
0.655
Gnomad AMR
AF:
0.765
Gnomad ASJ
AF:
0.767
Gnomad EAS
AF:
0.818
Gnomad SAS
AF:
0.731
Gnomad FIN
AF:
0.733
Gnomad MID
AF:
0.787
Gnomad NFE
AF:
0.681
Gnomad OTH
AF:
0.756
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.744
AC:
113075
AN:
152034
Hom.:
42381
Cov.:
33
AF XY:
0.750
AC XY:
55699
AN XY:
74312
show subpopulations
Gnomad4 AFR
AF:
0.832
Gnomad4 AMR
AF:
0.765
Gnomad4 ASJ
AF:
0.767
Gnomad4 EAS
AF:
0.818
Gnomad4 SAS
AF:
0.731
Gnomad4 FIN
AF:
0.733
Gnomad4 NFE
AF:
0.681
Gnomad4 OTH
AF:
0.759
Alfa
AF:
0.691
Hom.:
56119
Bravo
AF:
0.759

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.97
CADD
Benign
3.0
DANN
Benign
0.41

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: rs1541374; hg19: chr4-106048360; API