rs7655182

Variant summary

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

The ENST00000662475.1(ENSG00000286618):​n.307+4607C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.412 in 151,932 control chromosomes in the GnomAD database, including 13,421 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 0.41 ( 13421 hom., cov: 32)

Consequence

ENSG00000286618
ENST00000662475.1 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.575
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=-1.01).
BA1
GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.534 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
ENSG00000286618ENST00000662475.1 linkn.307+4607C>T intron_variant Intron 2 of 2

Frequencies

GnomAD3 genomes
AF:
0.412
AC:
62545
AN:
151814
Hom.:
13412
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.522
Gnomad AMI
AF:
0.469
Gnomad AMR
AF:
0.339
Gnomad ASJ
AF:
0.366
Gnomad EAS
AF:
0.458
Gnomad SAS
AF:
0.552
Gnomad FIN
AF:
0.424
Gnomad MID
AF:
0.348
Gnomad NFE
AF:
0.349
Gnomad OTH
AF:
0.387
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.412
AC:
62591
AN:
151932
Hom.:
13421
Cov.:
32
AF XY:
0.417
AC XY:
30917
AN XY:
74228
show subpopulations
Gnomad4 AFR
AF:
0.522
Gnomad4 AMR
AF:
0.338
Gnomad4 ASJ
AF:
0.366
Gnomad4 EAS
AF:
0.457
Gnomad4 SAS
AF:
0.551
Gnomad4 FIN
AF:
0.424
Gnomad4 NFE
AF:
0.349
Gnomad4 OTH
AF:
0.389
Alfa
AF:
0.386
Hom.:
1962
Bravo
AF:
0.414
Asia WGS
AF:
0.514
AC:
1788
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
1.4
DANN
Benign
0.33

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: rs7655182; hg19: chr4-88905903; API