rs6810075

Variant names:

• chr3-186830776-T-C
• rs6810075

Your query was ambiguous. Multiple possible variants found:

• chr3-186830776-T-C
• chr3-186830776-T-G

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.373 in 151,950 control chromosomes in the GnomAD database, including 11,056 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.37 (11056 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.196
• Publications: 53 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.428 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: 0.373 AC: 56637 AN: 151834 Hom.: 11046 Cov.: 32

Gnomad AFR AF: 0.341

Gnomad AMI AF: 0.514

Gnomad AMR AF: 0.424

Gnomad ASJ AF: 0.363

Gnomad EAS AF: 0.443

Gnomad SAS AF: 0.361

Gnomad FIN AF: 0.553

Gnomad MID AF: 0.310

Gnomad NFE AF: 0.348

Gnomad OTH AF: 0.351

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

GnomAD4 genome AF: 0.373 AC: 56684 AN: 151950 Hom.: 11056 Cov.: 32 AF XY: 0.383 AC XY: 28427 AN XY: 74244

African (AFR) AF: 0.341 AC: 14133 AN: 41424

American (AMR) AF: 0.425 AC: 6494 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.363 AC: 1259 AN: 3472

East Asian (EAS) AF: 0.443 AC: 2290 AN: 5164

South Asian (SAS) AF: 0.360 AC: 1738 AN: 4822

European-Finnish (FIN) AF: 0.553 AC: 5825 AN: 10524

Middle Eastern (MID) AF: 0.312 AC: 91 AN: 292

European-Non Finnish (NFE) AF: 0.348 AC: 23642 AN: 67958

Other (OTH) AF: 0.353 AC: 743 AN: 2106

Alfa AF: 0.352 Hom.: 39585

Bravo AF: 0.363

Asia WGS AF: 0.425 AC: 1481 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	3.3
DANN	Benign	0.26
PhyloP100		0.20

Splicing

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

Other links and lift over

dbSNP: rs6810075; hg19: chr3-186548565;