17-30245342-A-G

Variant summary

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

The ENST00000577420.1(ENSG00000266120):​n.60+6542A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.421 in 151,994 control chromosomes in the GnomAD database, including 14,063 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 0.42 ( 14063 hom., cov: 32)

Consequence

ENSG00000266120
ENST00000577420.1 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -3.12
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=-0.92).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.53 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
LOC105371720XR_001752824.2 linkn.892-4445A>G intron_variant Intron 3 of 3
LOC105371720XR_007065695.1 linkn.756-4445A>G intron_variant Intron 2 of 2
LOC105371720XR_007065696.1 linkn.756-406A>G intron_variant Intron 2 of 2
LOC105371720XR_007065698.1 linkn.755+6542A>G intron_variant Intron 2 of 2

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
ENSG00000266120ENST00000577420.1 linkn.60+6542A>G intron_variant Intron 1 of 1 3

Frequencies

GnomAD3 genomes
AF:
0.421
AC:
63953
AN:
151876
Hom.:
14020
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.536
Gnomad AMI
AF:
0.434
Gnomad AMR
AF:
0.406
Gnomad ASJ
AF:
0.323
Gnomad EAS
AF:
0.223
Gnomad SAS
AF:
0.363
Gnomad FIN
AF:
0.406
Gnomad MID
AF:
0.396
Gnomad NFE
AF:
0.382
Gnomad OTH
AF:
0.403
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.421
AC:
64054
AN:
151994
Hom.:
14063
Cov.:
32
AF XY:
0.418
AC XY:
31068
AN XY:
74280
show subpopulations
Gnomad4 AFR
AF:
0.536
Gnomad4 AMR
AF:
0.407
Gnomad4 ASJ
AF:
0.323
Gnomad4 EAS
AF:
0.222
Gnomad4 SAS
AF:
0.364
Gnomad4 FIN
AF:
0.406
Gnomad4 NFE
AF:
0.382
Gnomad4 OTH
AF:
0.408
Alfa
AF:
0.384
Hom.:
12180
Bravo
AF:
0.423
Asia WGS
AF:
0.375
AC:
1304
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.92
CADD
Benign
0.84
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: rs7214991; hg19: chr17-28572360; API