chr16-10183567-GACAC-G

Position:

• chr16-10183567-GACAC-G

Variant summary

Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2

No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.0044 (6 hom., cov: 0)
• Consequence: intergenic_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 3.35

Genes affected

(HGNC:):

ACMG classification

Verdict is Likely_benign. Variant got -4 ACMG points.

• BS2: High Homozygotes in GnomAd4 at 6 gene

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
		n.10183568_10183571delACAC		intergenic_region

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.00440 AC: 552 AN: 125448 Hom.: 6 Cov.: 0

Gnomad AFR AF: 0.00525

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00110

Gnomad ASJ AF: 0.000313

Gnomad EAS AF: 0.00148

Gnomad SAS AF: 0.00363

Gnomad FIN AF: 0.00271

Gnomad MID AF: 0.00775

Gnomad NFE AF: 0.00528

Gnomad OTH AF: 0.00656

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

GnomAD4 genome AF: 0.00439 AC: 551 AN: 125512 Hom.: 6 Cov.: 0 AF XY: 0.00444 AC XY: 264 AN XY: 59424

Gnomad4 AFR AF: 0.00524

Gnomad4 AMR AF: 0.00110

Gnomad4 ASJ AF: 0.000313

Gnomad4 EAS AF: 0.00148

Gnomad4 SAS AF: 0.00335

Gnomad4 FIN AF: 0.00271

Gnomad4 NFE AF: 0.00528

Gnomad4 OTH AF: 0.00648

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs3219790; hg19: chr16-10277424;