9-97407238-G-T

Variant summary

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

The ENST00000667253.1(ENSG00000286375):​n.52-2448C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.312 in 152,070 control chromosomes in the GnomAD database, including 7,463 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 0.31 ( 7463 hom., cov: 32)

Consequence

ENSG00000286375
ENST00000667253.1 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -1.79
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=-0.88).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.341 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
ENSG00000286375ENST00000667253.1 linkn.52-2448C>A intron_variant Intron 1 of 1

Frequencies

GnomAD3 genomes
AF:
0.312
AC:
47434
AN:
151952
Hom.:
7454
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.346
Gnomad AMI
AF:
0.333
Gnomad AMR
AF:
0.276
Gnomad ASJ
AF:
0.406
Gnomad EAS
AF:
0.272
Gnomad SAS
AF:
0.252
Gnomad FIN
AF:
0.272
Gnomad MID
AF:
0.339
Gnomad NFE
AF:
0.308
Gnomad OTH
AF:
0.320
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.312
AC:
47466
AN:
152070
Hom.:
7463
Cov.:
32
AF XY:
0.310
AC XY:
23064
AN XY:
74334
show subpopulations
Gnomad4 AFR
AF:
0.346
Gnomad4 AMR
AF:
0.276
Gnomad4 ASJ
AF:
0.406
Gnomad4 EAS
AF:
0.272
Gnomad4 SAS
AF:
0.252
Gnomad4 FIN
AF:
0.272
Gnomad4 NFE
AF:
0.308
Gnomad4 OTH
AF:
0.318
Alfa
AF:
0.308
Hom.:
3708
Bravo
AF:
0.314
Asia WGS
AF:
0.270
AC:
943
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.88
CADD
Benign
0.099
DANN
Benign
0.75

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: rs1462090; hg19: chr9-100169520; API