rs7889974

Variant summary

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

The ENST00000664519.1(ENSG00000288098):​n.223-118450A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.154 in 111,767 control chromosomes in the GnomAD database, including 1,211 homozygotes. There are 4,560 hemizygotes in GnomAD. 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 0.15 ( 1211 hom., 4560 hem., cov: 24)

Consequence

ENSG00000288098
ENST00000664519.1 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -1.62
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=-0.91).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.231 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
ENSG00000288098ENST00000664519.1 linkn.223-118450A>G intron_variant Intron 1 of 9

Frequencies

GnomAD3 genomes
AF:
0.154
AC:
17179
AN:
111711
Hom.:
1210
Cov.:
24
AF XY:
0.134
AC XY:
4552
AN XY:
33915
show subpopulations
Gnomad AFR
AF:
0.236
Gnomad AMI
AF:
0.0878
Gnomad AMR
AF:
0.109
Gnomad ASJ
AF:
0.197
Gnomad EAS
AF:
0.000282
Gnomad SAS
AF:
0.0299
Gnomad FIN
AF:
0.0723
Gnomad MID
AF:
0.204
Gnomad NFE
AF:
0.139
Gnomad OTH
AF:
0.174
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.154
AC:
17191
AN:
111767
Hom.:
1211
Cov.:
24
AF XY:
0.134
AC XY:
4560
AN XY:
33981
show subpopulations
Gnomad4 AFR
AF:
0.236
Gnomad4 AMR
AF:
0.109
Gnomad4 ASJ
AF:
0.197
Gnomad4 EAS
AF:
0.000283
Gnomad4 SAS
AF:
0.0311
Gnomad4 FIN
AF:
0.0723
Gnomad4 NFE
AF:
0.139
Gnomad4 OTH
AF:
0.177
Alfa
AF:
0.138
Hom.:
2525
Bravo
AF:
0.162

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.91
CADD
Benign
0.0080
DANN
Benign
0.54

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: rs7889974; hg19: chrX-141165043; API