rs6918981

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The ENST00000586726.3(ENSG00000225339):​n.137-8403G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.695 in 152,052 control chromosomes in the GnomAD database, including 38,550 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 0.70 ( 38550 hom., cov: 32)

Consequence

ENSG00000225339
ENST00000586726.3 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -1.42
Variant links:
Genes affected

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-1.02).
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.843 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
ENSG00000225339ENST00000586726.3 linkn.137-8403G>A intron_variant Intron 1 of 2 5
ENSG00000225339ENST00000659015.1 linkn.91-7171G>A intron_variant Intron 1 of 3

Frequencies

GnomAD3 genomes
AF:
0.696
AC:
105702
AN:
151934
Hom.:
38551
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.462
Gnomad AMI
AF:
0.723
Gnomad AMR
AF:
0.650
Gnomad ASJ
AF:
0.733
Gnomad EAS
AF:
0.849
Gnomad SAS
AF:
0.864
Gnomad FIN
AF:
0.808
Gnomad MID
AF:
0.804
Gnomad NFE
AF:
0.804
Gnomad OTH
AF:
0.705
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.695
AC:
105724
AN:
152052
Hom.:
38550
Cov.:
32
AF XY:
0.699
AC XY:
51909
AN XY:
74288
show subpopulations
Gnomad4 AFR
AF:
0.462
Gnomad4 AMR
AF:
0.649
Gnomad4 ASJ
AF:
0.733
Gnomad4 EAS
AF:
0.850
Gnomad4 SAS
AF:
0.864
Gnomad4 FIN
AF:
0.808
Gnomad4 NFE
AF:
0.804
Gnomad4 OTH
AF:
0.706
Alfa
AF:
0.784
Hom.:
87296
Bravo
AF:
0.669
Asia WGS
AF:
0.789
AC:
2741
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-1.0
CADD
Benign
0.59
DANN
Benign
0.52

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: rs6918981; hg19: chr6-34238514; API