rs1886512

Variant summary

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

The NM_007249.5(KLF12):​c.34-1979A>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.393 in 151,900 control chromosomes in the GnomAD database, including 12,068 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 ( 12068 hom., cov: 31)

Consequence

KLF12
NM_007249.5 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.219
Variant links:
Genes affected
KLF12 (HGNC:6346): (KLF transcription factor 12) Activator protein-2 alpha (AP-2 alpha) is a developmentally-regulated transcription factor and important regulator of gene expression during vertebrate development and carcinogenesis. The protein encoded by this gene is a member of the Kruppel-like zinc finger protein family and can repress expression of the AP-2 alpha gene by binding to a specific site in the AP-2 alpha gene promoter. Repression by the encoded protein requires binding with a corepressor, CtBP1. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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=-0.66).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.465 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
KLF12NM_001400136.1 linkuse as main transcriptc.34-1979A>T intron_variant NP_001387065.1
KLF12NM_001400139.1 linkuse as main transcriptc.34-1979A>T intron_variant NP_001387068.1
KLF12NM_001400141.1 linkuse as main transcriptc.34-1979A>T intron_variant NP_001387070.1

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
KLF12ENST00000377669.7 linkuse as main transcriptc.34-1979A>T intron_variant 1 ENSP00000366897.2 Q9Y4X4-1
KLF12ENST00000703967.1 linkuse as main transcriptc.34-1979A>T intron_variant ENSP00000515592.1 Q9Y4X4-1
KLF12ENST00000472022.1 linkuse as main transcriptn.68-1979A>T intron_variant 5

Frequencies

GnomAD3 genomes
AF:
0.393
AC:
59679
AN:
151782
Hom.:
12069
Cov.:
31
show subpopulations
Gnomad AFR
AF:
0.471
Gnomad AMI
AF:
0.312
Gnomad AMR
AF:
0.347
Gnomad ASJ
AF:
0.383
Gnomad EAS
AF:
0.256
Gnomad SAS
AF:
0.380
Gnomad FIN
AF:
0.355
Gnomad MID
AF:
0.430
Gnomad NFE
AF:
0.374
Gnomad OTH
AF:
0.405
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.393
AC:
59717
AN:
151900
Hom.:
12068
Cov.:
31
AF XY:
0.391
AC XY:
28986
AN XY:
74224
show subpopulations
Gnomad4 AFR
AF:
0.471
Gnomad4 AMR
AF:
0.347
Gnomad4 ASJ
AF:
0.383
Gnomad4 EAS
AF:
0.256
Gnomad4 SAS
AF:
0.380
Gnomad4 FIN
AF:
0.355
Gnomad4 NFE
AF:
0.374
Gnomad4 OTH
AF:
0.405
Alfa
AF:
0.373
Hom.:
6077
Bravo
AF:
0.395
Asia WGS
AF:
0.341
AC:
1186
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.66
CADD
Benign
8.5
DANN
Benign
0.81

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.030
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: rs1886512; hg19: chr13-74520186; COSMIC: COSV66580605; API