rs3760678

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 0.114 in 152,204 control chromosomes in the GnomAD database, including 1,226 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 0.11 ( 1226 hom., cov: 32)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.237
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=-0.92).
BA1
GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.155 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE UniProt

Ensembl

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

Frequencies

GnomAD3 genomes
AF:
0.114
AC:
17322
AN:
152086
Hom.:
1223
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.0270
Gnomad AMI
AF:
0.0702
Gnomad AMR
AF:
0.159
Gnomad ASJ
AF:
0.168
Gnomad EAS
AF:
0.0734
Gnomad SAS
AF:
0.147
Gnomad FIN
AF:
0.176
Gnomad MID
AF:
0.104
Gnomad NFE
AF:
0.145
Gnomad OTH
AF:
0.120
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.114
AC:
17328
AN:
152204
Hom.:
1226
Cov.:
32
AF XY:
0.116
AC XY:
8616
AN XY:
74398
show subpopulations
Gnomad4 AFR
AF:
0.0269
Gnomad4 AMR
AF:
0.160
Gnomad4 ASJ
AF:
0.168
Gnomad4 EAS
AF:
0.0730
Gnomad4 SAS
AF:
0.147
Gnomad4 FIN
AF:
0.176
Gnomad4 NFE
AF:
0.145
Gnomad4 OTH
AF:
0.119
Alfa
AF:
0.132
Hom.:
180
Bravo
AF:
0.111
Asia WGS
AF:
0.0950
AC:
330
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.92
CADD
Benign
6.9
DANN
Benign
0.53

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: rs3760678; hg19: chr19-7733120; API