rs6569992

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 0.173 in 152,096 control chromosomes in the GnomAD database, including 2,447 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 0.17 ( 2447 hom., cov: 32)

Consequence

Unknown

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -1.38
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 (EAS) allele frequency at 95% confidence interval = 0.249 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:
0.173
AC:
26336
AN:
151978
Hom.:
2452
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.123
Gnomad AMI
AF:
0.0735
Gnomad AMR
AF:
0.160
Gnomad ASJ
AF:
0.182
Gnomad EAS
AF:
0.261
Gnomad SAS
AF:
0.136
Gnomad FIN
AF:
0.256
Gnomad MID
AF:
0.168
Gnomad NFE
AF:
0.192
Gnomad OTH
AF:
0.160
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.173
AC:
26334
AN:
152096
Hom.:
2447
Cov.:
32
AF XY:
0.174
AC XY:
12961
AN XY:
74346
show subpopulations
Gnomad4 AFR
AF:
0.122
Gnomad4 AMR
AF:
0.160
Gnomad4 ASJ
AF:
0.182
Gnomad4 EAS
AF:
0.261
Gnomad4 SAS
AF:
0.136
Gnomad4 FIN
AF:
0.256
Gnomad4 NFE
AF:
0.192
Gnomad4 OTH
AF:
0.159
Alfa
AF:
0.187
Hom.:
4239
Bravo
AF:
0.167
Asia WGS
AF:
0.181
AC:
628
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
0.42
DANN
Benign
0.76

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: rs6569992; hg19: chr6-135452152; COSMIC: COSV58836614; API