rs2307652

Variant names:

• chr6-97010244-G-GA
• rs2307652
• ENST00000620278.1:c.-653dupA

Your query was ambiguous. Multiple possible variants found:

• chr6-97010244-G-GA
• chr6-97010244-G-GAAGC

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

The NM_001323263.2(KLHL32):​c.-9dupA variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 0)
• Consequence: KLHL32 NM_001323263.2 5_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.04
• Publications: 0 publications found

Genes affected

KLHL32 (HGNC:21221): (kelch like family member 32)

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001323263.2. 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
	KLHL32	NM_052904.4	MANE Select	c.205-31247dupA		intron	N/A	NP_443136.2	Q96NJ5-1
	KLHL32	NM_001323263.2		c.-9dupA		5_prime_UTR	Exon 1 of 9	NP_001310192.1
	KLHL32	NM_001323264.2		c.-9dupA		5_prime_UTR	Exon 1 of 8	NP_001310193.1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	KLHL32	ENST00000620278.1	TSL:1	c.-653dupA		5_prime_UTR	Exon 1 of 9	ENSP00000482012.1	A0A087WYQ8
	KLHL32	ENST00000369261.9	TSL:2 MANE Select	c.205-31247dupA		intron	N/A	ENSP00000358265.4	Q96NJ5-1
	KLHL32	ENST00000951639.1		c.205-31247dupA		intron	N/A	ENSP00000621698.1

Frequencies

GnomAD3 genomes Cov.: 0

GnomAD4 exome Cov.: 0

GnomAD4 genome Cov.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		-1.0

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

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

Other links and lift over

dbSNP: rs2307652;

hg19: chr6-97458120;