20-2498552-A-G

Variant summary

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

The NM_024325.6(ZNF343):​c.-150+2104T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.391 in 152,068 control chromosomes in the GnomAD database, including 12,176 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 0.39 ( 12176 hom., cov: 32)

Consequence

ZNF343
NM_024325.6 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.106
Variant links:
Genes affected
ZNF343 (HGNC:16017): (zinc finger protein 343) Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

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=-0.97).
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.452 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE UniProt
ZNF343NM_024325.6 linkuse as main transcriptc.-150+2104T>C intron_variant ENST00000278772.9

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
ZNF343ENST00000278772.9 linkuse as main transcriptc.-150+2104T>C intron_variant 2 NM_024325.6 P1Q6P1L6-1

Frequencies

GnomAD3 genomes
AF:
0.392
AC:
59502
AN:
151950
Hom.:
12169
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.294
Gnomad AMI
AF:
0.457
Gnomad AMR
AF:
0.329
Gnomad ASJ
AF:
0.437
Gnomad EAS
AF:
0.302
Gnomad SAS
AF:
0.373
Gnomad FIN
AF:
0.483
Gnomad MID
AF:
0.339
Gnomad NFE
AF:
0.456
Gnomad OTH
AF:
0.388
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.391
AC:
59533
AN:
152068
Hom.:
12176
Cov.:
32
AF XY:
0.391
AC XY:
29062
AN XY:
74316
show subpopulations
Gnomad4 AFR
AF:
0.294
Gnomad4 AMR
AF:
0.329
Gnomad4 ASJ
AF:
0.437
Gnomad4 EAS
AF:
0.302
Gnomad4 SAS
AF:
0.373
Gnomad4 FIN
AF:
0.483
Gnomad4 NFE
AF:
0.456
Gnomad4 OTH
AF:
0.389
Alfa
AF:
0.414
Hom.:
3119
Bravo
AF:
0.377
Asia WGS
AF:
0.348
AC:
1208
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.97
CADD
Benign
0.36
DANN
Benign
0.45

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

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: rs1547063; hg19: chr20-2479198; API