rs12602978

Variant summary

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

The ENST00000581944.1(ENSG00000265246):​n.49+1559G>A variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0953 in 152,202 control chromosomes in the GnomAD database, including 1,247 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 0.095 ( 1247 hom., cov: 32)

Consequence


ENST00000581944.1 intron, non_coding_transcript

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.481
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=-0.9).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.353 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
LOC124903956XR_007065676.1 linkuse as main transcriptn.97+1559G>A intron_variant, non_coding_transcript_variant

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
ENST00000581944.1 linkuse as main transcriptn.49+1559G>A intron_variant, non_coding_transcript_variant 2

Frequencies

GnomAD3 genomes
AF:
0.0952
AC:
14479
AN:
152086
Hom.:
1234
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.188
Gnomad AMI
AF:
0.0735
Gnomad AMR
AF:
0.0851
Gnomad ASJ
AF:
0.0433
Gnomad EAS
AF:
0.368
Gnomad SAS
AF:
0.119
Gnomad FIN
AF:
0.0253
Gnomad MID
AF:
0.0601
Gnomad NFE
AF:
0.0330
Gnomad OTH
AF:
0.0794
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.0953
AC:
14506
AN:
152202
Hom.:
1247
Cov.:
32
AF XY:
0.0980
AC XY:
7292
AN XY:
74398
show subpopulations
Gnomad4 AFR
AF:
0.188
Gnomad4 AMR
AF:
0.0850
Gnomad4 ASJ
AF:
0.0433
Gnomad4 EAS
AF:
0.367
Gnomad4 SAS
AF:
0.118
Gnomad4 FIN
AF:
0.0253
Gnomad4 NFE
AF:
0.0330
Gnomad4 OTH
AF:
0.0862
Alfa
AF:
0.0507
Hom.:
163
Bravo
AF:
0.102
Asia WGS
AF:
0.239
AC:
829
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.90
CADD
Benign
2.4
DANN
Benign
0.60

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: rs12602978; hg19: chr17-25567080; API