rs10828624

chr10-24307054-C-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_019590.5(KIAA1217):c.355-73815C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.207 in 152,206 control chromosomes in the GnomAD database, including 5,175 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 0.21 (5175 hom., cov: 32)
• Consequence: KIAA1217 NM_019590.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.267

Genes affected

KIAA1217 (HGNC:25428): (KIAA1217) Predicted to be involved in embryonic skeletal system development. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.427 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
KIAA1217	NM_019590.5	c.355-73815C>T		intron_variant		ENST00000376454.8

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
KIAA1217	ENST00000376454.8	c.355-73815C>T		intron_variant		1	NM_019590.5	A2

Frequencies

GnomAD3 genomes AF: 0.206 AC: 31400 AN: 152088 Hom.: 5157 Cov.: 32

Gnomad AFR AF: 0.433

Gnomad AMI AF: 0.135

Gnomad AMR AF: 0.113

Gnomad ASJ AF: 0.142

Gnomad EAS AF: 0.387

Gnomad SAS AF: 0.347

Gnomad FIN AF: 0.0375

Gnomad MID AF: 0.123

Gnomad NFE AF: 0.0980

Gnomad OTH AF: 0.186

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

GnomAD4 genome AF: 0.207 AC: 31464 AN: 152206 Hom.: 5175 Cov.: 32 AF XY: 0.205 AC XY: 15266 AN XY: 74444

Gnomad4 AFR AF: 0.433

Gnomad4 AMR AF: 0.112

Gnomad4 ASJ AF: 0.142

Gnomad4 EAS AF: 0.387

Gnomad4 SAS AF: 0.346

Gnomad4 FIN AF: 0.0375

Gnomad4 NFE AF: 0.0980

Gnomad4 OTH AF: 0.193

Alfa AF: 0.126 Hom.: 2324

Bravo AF: 0.220

Asia WGS AF: 0.350 AC: 1214 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
Cadd	Benign	0.67
Dann	Benign	0.48

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

Publications

LitVar

Other links and lift over

dbSNP: rs10828624; hg19: chr10-24595983;