7-150532365-C-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 0.716 in 152,122 control chromosomes in the GnomAD database, including 40,136 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 0.72 ( 40136 hom., cov: 31)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -1.26
Variant links:

Genome browser will be placed here

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.99).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.886 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:
0.716
AC:
108812
AN:
152004
Hom.:
40082
Cov.:
31
show subpopulations
Gnomad AFR
AF:
0.894
Gnomad AMI
AF:
0.699
Gnomad AMR
AF:
0.678
Gnomad ASJ
AF:
0.595
Gnomad EAS
AF:
0.745
Gnomad SAS
AF:
0.744
Gnomad FIN
AF:
0.768
Gnomad MID
AF:
0.627
Gnomad NFE
AF:
0.612
Gnomad OTH
AF:
0.648
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.716
AC:
108921
AN:
152122
Hom.:
40136
Cov.:
31
AF XY:
0.723
AC XY:
53756
AN XY:
74354
show subpopulations
Gnomad4 AFR
AF:
0.894
Gnomad4 AMR
AF:
0.677
Gnomad4 ASJ
AF:
0.595
Gnomad4 EAS
AF:
0.745
Gnomad4 SAS
AF:
0.743
Gnomad4 FIN
AF:
0.768
Gnomad4 NFE
AF:
0.612
Gnomad4 OTH
AF:
0.652
Alfa
AF:
0.671
Hom.:
4773
Bravo
AF:
0.715
Asia WGS
AF:
0.771
AC:
2682
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.99
CADD
Benign
1.2
DANN
Benign
0.28

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: rs1851434; hg19: chr7-150229453; API