rs7633800

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 0.269 in 152,102 control chromosomes in the GnomAD database, including 6,303 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 0.27 ( 6303 hom., cov: 32)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.202
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 (NFE) allele frequency at 95% confidence interval = 0.348 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:
0.270
AC:
40981
AN:
151984
Hom.:
6308
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.163
Gnomad AMI
AF:
0.367
Gnomad AMR
AF:
0.223
Gnomad ASJ
AF:
0.260
Gnomad EAS
AF:
0.00385
Gnomad SAS
AF:
0.210
Gnomad FIN
AF:
0.377
Gnomad MID
AF:
0.310
Gnomad NFE
AF:
0.352
Gnomad OTH
AF:
0.281
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.269
AC:
40967
AN:
152102
Hom.:
6303
Cov.:
32
AF XY:
0.267
AC XY:
19854
AN XY:
74342
show subpopulations
Gnomad4 AFR
AF:
0.163
Gnomad4 AMR
AF:
0.223
Gnomad4 ASJ
AF:
0.260
Gnomad4 EAS
AF:
0.00386
Gnomad4 SAS
AF:
0.209
Gnomad4 FIN
AF:
0.377
Gnomad4 NFE
AF:
0.352
Gnomad4 OTH
AF:
0.277
Alfa
AF:
0.301
Hom.:
1305
Bravo
AF:
0.252
Asia WGS
AF:
0.0900
AC:
314
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
1.3
DANN
Benign
0.67

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: rs7633800; hg19: chr3-122011665; API