rs2675679

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 0.424 in 152,040 control chromosomes in the GnomAD database, including 15,274 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 0.42 ( 15274 hom., cov: 31)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.0180
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=-0.9).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.544 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:
0.424
AC:
64449
AN:
151922
Hom.:
15267
Cov.:
31
show subpopulations
Gnomad AFR
AF:
0.249
Gnomad AMI
AF:
0.532
Gnomad AMR
AF:
0.424
Gnomad ASJ
AF:
0.550
Gnomad EAS
AF:
0.110
Gnomad SAS
AF:
0.274
Gnomad FIN
AF:
0.466
Gnomad MID
AF:
0.525
Gnomad NFE
AF:
0.549
Gnomad OTH
AF:
0.495
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.424
AC:
64475
AN:
152040
Hom.:
15274
Cov.:
31
AF XY:
0.418
AC XY:
31072
AN XY:
74300
show subpopulations
Gnomad4 AFR
AF:
0.249
Gnomad4 AMR
AF:
0.424
Gnomad4 ASJ
AF:
0.550
Gnomad4 EAS
AF:
0.110
Gnomad4 SAS
AF:
0.275
Gnomad4 FIN
AF:
0.466
Gnomad4 NFE
AF:
0.549
Gnomad4 OTH
AF:
0.491
Alfa
AF:
0.500
Hom.:
11426
Bravo
AF:
0.415
Asia WGS
AF:
0.187
AC:
650
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.90
CADD
Benign
1.6
DANN
Benign
0.27

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: rs2675679; hg19: chr10-75658581; API