4-99321650-ACC-ACCC

Position:

• chr4-99321650-ACC-ACCC

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1

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

• Frequency: Genomes: 𝑓 0.11 (645 hom., cov: 0)
• Consequence: intergenic_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.874

Genes affected

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.152 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
		n.99321650_99321651insC		intergenic_region

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.108 AC: 14515 AN: 133858 Hom.: 648 Cov.: 0

Gnomad AFR AF: 0.155

Gnomad AMI AF: 0.0966

Gnomad AMR AF: 0.141

Gnomad ASJ AF: 0.208

Gnomad EAS AF: 0.0404

Gnomad SAS AF: 0.0841

Gnomad FIN AF: 0.107

Gnomad MID AF: 0.159

Gnomad NFE AF: 0.0750

Gnomad OTH AF: 0.130

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

GnomAD4 genome AF: 0.108 AC: 14510 AN: 133956 Hom.: 645 Cov.: 0 AF XY: 0.109 AC XY: 7040 AN XY: 64726

Gnomad4 AFR AF: 0.155

Gnomad4 AMR AF: 0.141

Gnomad4 ASJ AF: 0.208

Gnomad4 EAS AF: 0.0403

Gnomad4 SAS AF: 0.0838

Gnomad4 FIN AF: 0.107

Gnomad4 NFE AF: 0.0750

Gnomad4 OTH AF: 0.131

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: rs3076071; hg19: chr4-100242807;