11-102845216-GA-GAA

Variant names:

• chr11-102845216-G-GA
• rs35068180

Variant summary

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

Variant has been reported in ClinVar as risk factor (no stars).

• Frequency: Genomes: 𝑓 0.65 (34852 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: risk factor no assertion criteria provided O:1
• Conservation: PhyloP100: -0.333

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.885 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.654 AC: 99304 AN: 151794 Hom.: 34785 Cov.: 0

Gnomad AFR AF: 0.892

Gnomad AMI AF: 0.584

Gnomad AMR AF: 0.666

Gnomad ASJ AF: 0.619

Gnomad EAS AF: 0.864

Gnomad SAS AF: 0.786

Gnomad FIN AF: 0.606

Gnomad MID AF: 0.579

Gnomad NFE AF: 0.493

Gnomad OTH AF: 0.618

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

GnomAD4 genome AF: 0.655 AC: 99430 AN: 151912 Hom.: 34852 Cov.: 0 AF XY: 0.662 AC XY: 49154 AN XY: 74246

Gnomad4 AFR AF: 0.893

Gnomad4 AMR AF: 0.667

Gnomad4 ASJ AF: 0.619

Gnomad4 EAS AF: 0.863

Gnomad4 SAS AF: 0.784

Gnomad4 FIN AF: 0.606

Gnomad4 NFE AF: 0.493

Gnomad4 OTH AF: 0.623

ClinVar

Significance: risk factor

Submissions summary: Other:1

Revision: no assertion criteria provided

Submissions by phenotype

Coronary heart disease, susceptibility to, 6 Other:1

Dec 12, 2002

OMIM

Significance: risk factor

Review Status: no assertion criteria provided

Collection Method: literature only

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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: rs35068180; hg19: chr11-102715947;