rs6951180

Variant names:

• chr7-27223230-G-A
• rs6951180

Your query was ambiguous. Multiple possible variants found:

• chr7-27223230-G-A
• chr7-27223230-G-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 0.714 in 152,144 control chromosomes in the GnomAD database, including 42,538 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 0.71 (42538 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.116
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.869 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: 0.714 AC: 108590 AN: 152024 Hom.: 42541 Cov.: 32

Gnomad AFR AF: 0.374

Gnomad AMI AF: 0.830

Gnomad AMR AF: 0.781

Gnomad ASJ AF: 0.910

Gnomad EAS AF: 0.525

Gnomad SAS AF: 0.885

Gnomad FIN AF: 0.841

Gnomad MID AF: 0.864

Gnomad NFE AF: 0.875

Gnomad OTH AF: 0.769

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

GnomAD4 genome AF: 0.714 AC: 108612 AN: 152144 Hom.: 42538 Cov.: 32 AF XY: 0.716 AC XY: 53256 AN XY: 74380

African (AFR) AF: 0.373 AC: 15474 AN: 41478

American (AMR) AF: 0.781 AC: 11936 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.910 AC: 3161 AN: 3472

East Asian (EAS) AF: 0.525 AC: 2708 AN: 5162

South Asian (SAS) AF: 0.885 AC: 4262 AN: 4816

European-Finnish (FIN) AF: 0.841 AC: 8923 AN: 10604

Middle Eastern (MID) AF: 0.861 AC: 253 AN: 294

European-Non Finnish (NFE) AF: 0.875 AC: 59518 AN: 68018

Other (OTH) AF: 0.771 AC: 1620 AN: 2102

Alfa AF: 0.823 Hom.: 64115

Bravo AF: 0.689

Asia WGS AF: 0.721 AC: 2508 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	2.6
DANN	Benign	0.62
PhyloP100		0.12

Splicing

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

Other links and lift over

dbSNP: rs6951180; hg19: chr7-27262849;