rs9316529

Variant summary

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

The XR_001749988.2(LOC107984554):​n.37-1391A>G 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 0.0393 in 152,326 control chromosomes in the GnomAD database, including 311 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 0.039 ( 311 hom., cov: 32)

Consequence

LOC107984554
XR_001749988.2 intron, non_coding_transcript

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.283
Variant links:
Genes affected
C13orf42 (HGNC:42693): (chromosome 13 open reading frame 42)

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=-0.89).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.236 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
LOC107984554XR_001749988.2 linkuse as main transcriptn.37-1391A>G intron_variant, non_coding_transcript_variant
LOC107984554XR_007063803.1 linkuse as main transcriptn.37-1391A>G intron_variant, non_coding_transcript_variant

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
C13orf42ENST00000636098.1 linkuse as main transcriptn.206+6742A>G intron_variant, non_coding_transcript_variant 5

Frequencies

GnomAD3 genomes
AF:
0.0392
AC:
5974
AN:
152208
Hom.:
308
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.00839
Gnomad AMI
AF:
0.00768
Gnomad AMR
AF:
0.0886
Gnomad ASJ
AF:
0.0545
Gnomad EAS
AF:
0.247
Gnomad SAS
AF:
0.0406
Gnomad FIN
AF:
0.0244
Gnomad MID
AF:
0.0411
Gnomad NFE
AF:
0.0330
Gnomad OTH
AF:
0.0396
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.0393
AC:
5993
AN:
152326
Hom.:
311
Cov.:
32
AF XY:
0.0419
AC XY:
3123
AN XY:
74484
show subpopulations
Gnomad4 AFR
AF:
0.00837
Gnomad4 AMR
AF:
0.0894
Gnomad4 ASJ
AF:
0.0545
Gnomad4 EAS
AF:
0.247
Gnomad4 SAS
AF:
0.0413
Gnomad4 FIN
AF:
0.0244
Gnomad4 NFE
AF:
0.0330
Gnomad4 OTH
AF:
0.0416
Alfa
AF:
0.0352
Hom.:
21
Bravo
AF:
0.0441
Asia WGS
AF:
0.109
AC:
379
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.89
CADD
Benign
1.8
DANN
Benign
0.71

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: rs9316529; hg19: chr13-51767441; API