rs660895

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1

The variant allele was found at a frequency of 0.195 in 152,160 control chromosomes in the GnomAD database, including 3,142 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 0.20 ( 3142 hom., cov: 31)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.386
Variant links:

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ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.88).
BA1
GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.284 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:
0.195
AC:
29656
AN:
152042
Hom.:
3133
Cov.:
31
show subpopulations
Gnomad AFR
AF:
0.146
Gnomad AMI
AF:
0.204
Gnomad AMR
AF:
0.290
Gnomad ASJ
AF:
0.211
Gnomad EAS
AF:
0.267
Gnomad SAS
AF:
0.128
Gnomad FIN
AF:
0.254
Gnomad MID
AF:
0.161
Gnomad NFE
AF:
0.194
Gnomad OTH
AF:
0.172
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.195
AC:
29694
AN:
152160
Hom.:
3142
Cov.:
31
AF XY:
0.199
AC XY:
14798
AN XY:
74396
show subpopulations
Gnomad4 AFR
AF:
0.146
AC:
0.145723
AN:
0.145723
Gnomad4 AMR
AF:
0.291
AC:
0.29128
AN:
0.29128
Gnomad4 ASJ
AF:
0.211
AC:
0.211361
AN:
0.211361
Gnomad4 EAS
AF:
0.268
AC:
0.267505
AN:
0.267505
Gnomad4 SAS
AF:
0.128
AC:
0.127849
AN:
0.127849
Gnomad4 FIN
AF:
0.254
AC:
0.254208
AN:
0.254208
Gnomad4 NFE
AF:
0.194
AC:
0.193731
AN:
0.193731
Gnomad4 OTH
AF:
0.171
AC:
0.170778
AN:
0.170778
Heterozygous variant carriers
0
1186
2373
3559
4746
5932
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
Genome Het
Genome Hom
Variant carriers
0
312
624
936
1248
1560
<30
30-35
35-40
40-45
45-50
50-55
55-60
60-65
65-70
70-75
75-80
>80
Age
Alfa
AF:
0.203
Hom.:
14472
Bravo
AF:
0.202
Asia WGS
AF:
0.224
AC:
780
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.88
CADD
Benign
7.1
DANN
Benign
0.52

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: rs660895; hg19: chr6-32577380; API