rs6754006

Variant names:

• chr2-146148119-C-G
• rs6754006

Your query was ambiguous. Multiple possible variants found:

• chr2-146148119-C-G
• chr2-146148119-C-T

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 0.943 in 151,750 control chromosomes in the GnomAD database, including 67,760 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 0.94 (67760 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0170
• Publications: 0 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.986 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: 0.943 AC: 142998 AN: 151632 Hom.: 67733 Cov.: 31

Gnomad AFR AF: 0.864

Gnomad AMI AF: 0.936

Gnomad AMR AF: 0.895

Gnomad ASJ AF: 0.997

Gnomad EAS AF: 0.966

Gnomad SAS AF: 0.918

Gnomad FIN AF: 0.985

Gnomad MID AF: 0.959

Gnomad NFE AF: 0.993

Gnomad OTH AF: 0.951

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

GnomAD4 genome AF: 0.943 AC: 143082 AN: 151750 Hom.: 67760 Cov.: 31 AF XY: 0.941 AC XY: 69768 AN XY: 74176

African (AFR) AF: 0.864 AC: 35793 AN: 41428

American (AMR) AF: 0.894 AC: 13579 AN: 15182

Ashkenazi Jewish (ASJ) AF: 0.997 AC: 3456 AN: 3466

East Asian (EAS) AF: 0.966 AC: 4950 AN: 5122

South Asian (SAS) AF: 0.918 AC: 4421 AN: 4818

European-Finnish (FIN) AF: 0.985 AC: 10445 AN: 10608

Middle Eastern (MID) AF: 0.956 AC: 281 AN: 294

European-Non Finnish (NFE) AF: 0.993 AC: 67307 AN: 67814

Other (OTH) AF: 0.948 AC: 1998 AN: 2108

Alfa AF: 0.969 Hom.: 8351

Bravo AF: 0.932

Asia WGS AF: 0.919 AC: 3197 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	1.5
DANN	Benign	0.55
PhyloP100		0.017

Splicing

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

Other links and lift over

dbSNP: rs6754006; hg19: chr2-146905687;