rs9613617

Positions:

• chr22-28451908-T-C

Variant summary

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

The NM_001145418.2(TTC28):​c.382-145265A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.283 in 152,064 control chromosomes in the GnomAD database, including 7,517 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 0.28 (7517 hom., cov: 32)
• Consequence: TTC28 NM_001145418.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0890

Genes affected

TTC28 (HGNC:29179): (tetratricopeptide repeat domain 28) Enables kinase binding activity. Involved in regulation of mitotic cell cycle. Located in midbody. [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=-0.91).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.386 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
TTC28	NM_001145418.2	c.382-145265A>G		intron_variant		ENST00000397906.7

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
TTC28	ENST00000397906.7	c.382-145265A>G		intron_variant		1	NM_001145418.2	P1

Frequencies

GnomAD3 genomes AF: 0.284 AC: 43094 AN: 151946 Hom.: 7525 Cov.: 32

Gnomad AFR AF: 0.0784

Gnomad AMI AF: 0.379

Gnomad AMR AF: 0.241

Gnomad ASJ AF: 0.355

Gnomad EAS AF: 0.259

Gnomad SAS AF: 0.401

Gnomad FIN AF: 0.383

Gnomad MID AF: 0.383

Gnomad NFE AF: 0.390

Gnomad OTH AF: 0.302

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

GnomAD4 genome AF: 0.283 AC: 43075 AN: 152064 Hom.: 7517 Cov.: 32 AF XY: 0.283 AC XY: 21022 AN XY: 74298

Gnomad4 AFR AF: 0.0782

Gnomad4 AMR AF: 0.240

Gnomad4 ASJ AF: 0.355

Gnomad4 EAS AF: 0.260

Gnomad4 SAS AF: 0.401

Gnomad4 FIN AF: 0.383

Gnomad4 NFE AF: 0.390

Gnomad4 OTH AF: 0.301

Alfa AF: 0.347 Hom.: 3760

Bravo AF: 0.263

Asia WGS AF: 0.353 AC: 1230 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	3.2
DANN	Benign	0.76

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: rs9613617; hg19: chr22-28847896;