13-41141146-T-C

Variant names:

• chr13-41141146-T-C
• rs1572018
• ENST00000615685.4:n.98-5281T>C

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000619407.4(KBTBD6-DT):​n.118-5281T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.627 in 152,178 control chromosomes in the GnomAD database, including 36,936 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 0.63 (36936 hom., cov: 32)
• Consequence: KBTBD6-DT ENST00000619407.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.613
• Publications: 17 publications found

Genes affected

KBTBD6-DT (HGNC:56824): (KBTBD6 divergent transcript)

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.8).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.844 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000619407.4. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	KBTBD6-DT	NR_120423.1		n.129-5281T>C		intron	N/A

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	KBTBD6-DT	ENST00000615685.4	TSL:4	n.98-5281T>C		intron	N/A
	KBTBD6-DT	ENST00000616251.3	TSL:3	n.143-5281T>C		intron	N/A
	KBTBD6-DT	ENST00000619407.4	TSL:2	n.118-5281T>C		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.627 AC: 95360 AN: 152060 Hom.: 36939 Cov.: 32

Gnomad AFR AF: 0.160

Gnomad AMI AF: 0.770

Gnomad AMR AF: 0.798

Gnomad ASJ AF: 0.829

Gnomad EAS AF: 0.356

Gnomad SAS AF: 0.692

Gnomad FIN AF: 0.783

Gnomad MID AF: 0.734

Gnomad NFE AF: 0.849

Gnomad OTH AF: 0.703

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.627 AC: 95342 AN: 152178 Hom.: 36936 Cov.: 32 AF XY: 0.627 AC XY: 46655 AN XY: 74392

African (AFR) AF: 0.160 AC: 6620 AN: 41488

American (AMR) AF: 0.798 AC: 12204 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.829 AC: 2876 AN: 3468

East Asian (EAS) AF: 0.356 AC: 1845 AN: 5178

South Asian (SAS) AF: 0.691 AC: 3335 AN: 4824

European-Finnish (FIN) AF: 0.783 AC: 8296 AN: 10596

Middle Eastern (MID) AF: 0.728 AC: 214 AN: 294

European-Non Finnish (NFE) AF: 0.849 AC: 57783 AN: 68022

Other (OTH) AF: 0.695 AC: 1467 AN: 2112

Alfa AF: 0.753 Hom.: 89621

Bravo AF: 0.608

Asia WGS AF: 0.468 AC: 1627 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.80
CADD	Benign	12
DANN	Benign	0.90
PhyloP100		0.61

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs1572018;

hg19: chr13-41715282;