4-99321650-ACC-ACCCC

Position:

• chr4-99321650-ACC-ACCCC

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 0.0077 (10 hom., cov: 0)
• Consequence: intergenic_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.874

Genes affected

(HGNC:):

ACMG classification

Verdict is Likely_benign. Variant got -4 ACMG points.

• BS2: High Homozygotes in GnomAd4 at 10 gene

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
		n.99321650_99321651insCC		intergenic_region

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.00769 AC: 1045 AN: 135950 Hom.: 10 Cov.: 0

Gnomad AFR AF: 0.0104

Gnomad AMI AF: 0.0169

Gnomad AMR AF: 0.00605

Gnomad ASJ AF: 0.00248

Gnomad EAS AF: 0.000799

Gnomad SAS AF: 0.00115

Gnomad FIN AF: 0.00448

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.00806

Gnomad OTH AF: 0.00532

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

GnomAD4 genome AF: 0.00768 AC: 1045 AN: 136052 Hom.: 10 Cov.: 0 AF XY: 0.00739 AC XY: 486 AN XY: 65728

Gnomad4 AFR AF: 0.0104

Gnomad4 AMR AF: 0.00596

Gnomad4 ASJ AF: 0.00248

Gnomad4 EAS AF: 0.000801

Gnomad4 SAS AF: 0.00115

Gnomad4 FIN AF: 0.00448

Gnomad4 NFE AF: 0.00806

Gnomad4 OTH AF: 0.00528

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;