rs7642482

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 0.12 in 152,272 control chromosomes in the GnomAD database, including 1,412 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 0.12 ( 1412 hom., cov: 33)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 2.83
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=-0.49).
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.174 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt

Frequencies

GnomAD3 genomes
AF:
0.120
AC:
18245
AN:
152154
Hom.:
1411
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.0285
Gnomad AMI
AF:
0.120
Gnomad AMR
AF:
0.102
Gnomad ASJ
AF:
0.147
Gnomad EAS
AF:
0.133
Gnomad SAS
AF:
0.184
Gnomad FIN
AF:
0.133
Gnomad MID
AF:
0.244
Gnomad NFE
AF:
0.170
Gnomad OTH
AF:
0.125
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.120
AC:
18240
AN:
152272
Hom.:
1412
Cov.:
33
AF XY:
0.120
AC XY:
8935
AN XY:
74462
show subpopulations
Gnomad4 AFR
AF:
0.0285
Gnomad4 AMR
AF:
0.102
Gnomad4 ASJ
AF:
0.147
Gnomad4 EAS
AF:
0.133
Gnomad4 SAS
AF:
0.184
Gnomad4 FIN
AF:
0.133
Gnomad4 NFE
AF:
0.170
Gnomad4 OTH
AF:
0.124
Alfa
AF:
0.112
Hom.:
320
Bravo
AF:
0.109
Asia WGS
AF:
0.159
AC:
555
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.49
CADD
Benign
17
DANN
Benign
0.65

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: rs7642482; hg19: chr3-77717756; API