rs10795791

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 0.404 in 151,940 control chromosomes in the GnomAD database, including 13,221 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 0.40 ( 13221 hom., cov: 31)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.696
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=-0.97).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.543 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:
0.404
AC:
61349
AN:
151824
Hom.:
13200
Cov.:
31
show subpopulations
Gnomad AFR
AF:
0.275
Gnomad AMI
AF:
0.424
Gnomad AMR
AF:
0.515
Gnomad ASJ
AF:
0.304
Gnomad EAS
AF:
0.560
Gnomad SAS
AF:
0.532
Gnomad FIN
AF:
0.544
Gnomad MID
AF:
0.367
Gnomad NFE
AF:
0.420
Gnomad OTH
AF:
0.411
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.404
AC:
61411
AN:
151940
Hom.:
13221
Cov.:
31
AF XY:
0.414
AC XY:
30748
AN XY:
74254
show subpopulations
Gnomad4 AFR
AF:
0.276
Gnomad4 AMR
AF:
0.516
Gnomad4 ASJ
AF:
0.304
Gnomad4 EAS
AF:
0.560
Gnomad4 SAS
AF:
0.533
Gnomad4 FIN
AF:
0.544
Gnomad4 NFE
AF:
0.420
Gnomad4 OTH
AF:
0.413
Alfa
AF:
0.410
Hom.:
2520
Bravo
AF:
0.395
Asia WGS
AF:
0.543
AC:
1889
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.97
CADD
Benign
1.2
DANN
Benign
0.74

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: rs10795791; hg19: chr10-6108340; API