11-102845216-GA-GAA

Variant names:

• chr11-102845216-G-GA
• rs35068180

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 37 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.893 AC: 37006 AN: 41462

American (AMR) AF: 0.667 AC: 10162 AN: 15246

Ashkenazi Jewish (ASJ) AF: 0.619 AC: 2147 AN: 3470

East Asian (EAS) AF: 0.863 AC: 4446 AN: 5150

South Asian (SAS) AF: 0.784 AC: 3774 AN: 4812

European-Finnish (FIN) AF: 0.606 AC: 6396 AN: 10548

Middle Eastern (MID) AF: 0.582 AC: 171 AN: 294

European-Non Finnish (NFE) AF: 0.493 AC: 33484 AN: 67912

Other (OTH) AF: 0.623 AC: 1313 AN: 2108

Alfa AF: 0.407 Hom.: 1621

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

Name	Calibrated prediction	Score	Prediction
PhyloP100		-0.33

Splicing

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

Other links and lift over

dbSNP: rs35068180; hg19: chr11-102715947;