rs10500577

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 0.0645 in 152,054 control chromosomes in the GnomAD database, including 988 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 0.065 ( 988 hom., cov: 32)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.109
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=-0.99).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.213 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:
0.0645
AC:
9799
AN:
151936
Hom.:
986
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.217
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.0234
Gnomad ASJ
AF:
0.0424
Gnomad EAS
AF:
0.00327
Gnomad SAS
AF:
0.0247
Gnomad FIN
AF:
0.00
Gnomad MID
AF:
0.0223
Gnomad NFE
AF:
0.00144
Gnomad OTH
AF:
0.0445
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.0645
AC:
9815
AN:
152054
Hom.:
988
Cov.:
32
AF XY:
0.0620
AC XY:
4610
AN XY:
74332
show subpopulations
Gnomad4 AFR
AF:
0.217
Gnomad4 AMR
AF:
0.0233
Gnomad4 ASJ
AF:
0.0424
Gnomad4 EAS
AF:
0.00309
Gnomad4 SAS
AF:
0.0247
Gnomad4 FIN
AF:
0.00
Gnomad4 NFE
AF:
0.00144
Gnomad4 OTH
AF:
0.0464
Alfa
AF:
0.00946
Hom.:
22
Bravo
AF:
0.0722

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.99
CADD
Benign
3.2
DANN
Benign
0.39

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: rs10500577; hg19: chr16-73970673; API