rs7980470

Variant names:

• chr12-10401289-A-G
• rs7980470
• ENST00000539300.5:n.*17+6347T>C

Your query was ambiguous. Multiple possible variants found:

• chr12-10401289-A-G
• chr12-10401289-A-T

Variant summary

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

The ENST00000539300.5(KLRC4-KLRK1):​n.*17+6347T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.183 in 151,928 control chromosomes in the GnomAD database, including 2,917 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 0.18 (2917 hom., cov: 32)
• Consequence: KLRC4-KLRK1 ENST00000539300.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.176
• Publications: 8 publications found

Genes affected

KLRC4-KLRK1 (HGNC:48357): (KLRC4-KLRK1 readthrough) This locus represents naturally occurring read-through transcription between the neighboring KLRC4 (killer cell lectin-like receptor subfamily C, member 4) and KLRK1 (killer cell lectin-like receptor subfamily K, member 1) genes on chromosome 12. The read-through transcript includes an alternate 5' exon and lacks a significant portion of the KLRC4 coding sequence, including the start codon, and it thus encodes the KLRK1 protein. [provided by RefSeq, Dec 2010]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.32 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000539300.5. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	KLRC4-KLRK1	NM_001199805.1		c.-181+6347T>C		intron	N/A	NP_001186734.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	KLRC4-KLRK1	ENST00000539300.5	TSL:2	n.*17+6347T>C		intron	N/A	ENSP00000455951.1
	KLRC4-KLRK1	ENST00000539370.5	TSL:2	n.468+6347T>C		intron	N/A
	KLRC4-KLRK1	ENST00000543572.6	TSL:2	n.*17+6347T>C		intron	N/A	ENSP00000456286.1

Frequencies

GnomAD3 genomes AF: 0.183 AC: 27838 AN: 151810 Hom.: 2913 Cov.: 32

Gnomad AFR AF: 0.264

Gnomad AMI AF: 0.105

Gnomad AMR AF: 0.183

Gnomad ASJ AF: 0.205

Gnomad EAS AF: 0.208

Gnomad SAS AF: 0.334

Gnomad FIN AF: 0.163

Gnomad MID AF: 0.204

Gnomad NFE AF: 0.125

Gnomad OTH AF: 0.175

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

GnomAD4 genome AF: 0.183 AC: 27865 AN: 151928 Hom.: 2917 Cov.: 32 AF XY: 0.187 AC XY: 13913 AN XY: 74302

African (AFR) AF: 0.264 AC: 10927 AN: 41454

American (AMR) AF: 0.183 AC: 2795 AN: 15240

Ashkenazi Jewish (ASJ) AF: 0.205 AC: 709 AN: 3466

East Asian (EAS) AF: 0.209 AC: 1082 AN: 5176

South Asian (SAS) AF: 0.333 AC: 1604 AN: 4814

European-Finnish (FIN) AF: 0.163 AC: 1723 AN: 10586

Middle Eastern (MID) AF: 0.202 AC: 59 AN: 292

European-Non Finnish (NFE) AF: 0.125 AC: 8501 AN: 67880

Other (OTH) AF: 0.175 AC: 369 AN: 2108

Alfa AF: 0.155 Hom.: 2956

Bravo AF: 0.187

Asia WGS AF: 0.264 AC: 915 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	4.6
DANN	Benign	0.66
PhyloP100		-0.18

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

Other links and lift over

dbSNP: rs7980470; hg19: chr12-10553888;