chr1-44139247-C-T

Position:

• chr1-44139247-C-T

Variant summary

Our verdict is Benign. Variant got -7 ACMG points: 0P and 7B. BP4_Strong BP6_Moderate BP7

The NM_001358438.1(KLF18):​c.2385G>A​(p.Gly795Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).

• Frequency:
  • Genomes: 𝑓 0.00063 (0 hom., cov: 24)
  • Exomes 𝑓: 0.00036 (5 hom.)
  • Failed GnomAD Quality Control
• Consequence: KLF18 NM_001358438.1 synonymous
• Clinical Significance: Likely benign criteria provided, single submitter B:1
• Conservation: PhyloP100: -0.448

Genes affected

KLF18 (HGNC:51793): (KLF transcription factor 18) Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -7 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BP6: Variant 1-44139247-C-T is Benign according to our data. Variant chr1-44139247-C-T is described in ClinVar as [Likely_benign]. Clinvar id is 3067367.Status of the report is criteria_provided_single_submitter, 1 stars.
• BP7: Synonymous conserved (PhyloP=-0.448 with no splicing effect.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
KLF18	NM_001358438.1	c.2385G>A	p.Gly795Gly	synonymous_variant	1/2	ENST00000634670.1	NP_001345367.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
KLF18	ENST00000634670.1	c.2385G>A	p.Gly795Gly	synonymous_variant	1/2	5	NM_001358438.1	ENSP00000489024.1

Frequencies

GnomAD3 genomes AF: 0.00 AC: 87 AN: 142032 Hom.: 0 Cov.: 24 FAILED QC

Gnomad AFR AF: 0.000342

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00316

Gnomad ASJ AF: 0.000294

Gnomad EAS AF: 0.00281

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.000630

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.000182

Gnomad OTH AF: 0.00

GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.000355 AC: 84 AN: 236356 Hom.: 5 Cov.: 0 AF XY: 0.000350 AC XY: 42 AN XY: 120116

Gnomad4 AFR exome AF: 0.00

Gnomad4 AMR exome AF: 0.00277

Gnomad4 ASJ exome AF: 0.00

Gnomad4 EAS exome AF: 0.00292

Gnomad4 SAS exome AF: 0.00

Gnomad4 FIN exome AF: 0.000149

Gnomad4 NFE exome AF: 0.00000648

Gnomad4 OTH exome AF: 0.000255

GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.000626 AC: 89 AN: 142130 Hom.: 0 Cov.: 24 AF XY: 0.000724 AC XY: 50 AN XY: 69028

Gnomad4 AFR AF: 0.000394

Gnomad4 AMR AF: 0.00315

Gnomad4 ASJ AF: 0.000294

Gnomad4 EAS AF: 0.00282

Gnomad4 SAS AF: 0.00

Gnomad4 FIN AF: 0.000630

Gnomad4 NFE AF: 0.000182

Gnomad4 OTH AF: 0.00

Alfa AF: 0.000490 Hom.: 0

ClinVar

Significance: Likely benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

Submissions by phenotype

not provided Benign:1

Likely benign, criteria provided, single submitter

clinical testing

CeGaT Center for Human Genetics Tuebingen

Nov 01, 2024

KLF18: BP4, BP7 -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.50
DANN	Benign	0.53

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.010		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

Other links and lift over

dbSNP: rs1291913363; hg19: chr1-44604919;