rs6967345

Variant names:

• chr7-53088495-G-A
• rs6967345

Your query was ambiguous. Multiple possible variants found:

• chr7-53088495-G-A
• chr7-53088495-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 0.634 in 152,132 control chromosomes in the GnomAD database, including 31,422 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 0.63 (31422 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.973
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.714 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: 0.634 AC: 96343 AN: 152014 Hom.: 31394 Cov.: 33

Gnomad AFR AF: 0.720

Gnomad AMI AF: 0.666

Gnomad AMR AF: 0.580

Gnomad ASJ AF: 0.582

Gnomad EAS AF: 0.273

Gnomad SAS AF: 0.338

Gnomad FIN AF: 0.692

Gnomad MID AF: 0.624

Gnomad NFE AF: 0.635

Gnomad OTH AF: 0.634

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

GnomAD4 genome AF: 0.634 AC: 96427 AN: 152132 Hom.: 31422 Cov.: 33 AF XY: 0.628 AC XY: 46697 AN XY: 74386

African (AFR) AF: 0.721 AC: 29896 AN: 41488

American (AMR) AF: 0.580 AC: 8856 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.582 AC: 2022 AN: 3472

East Asian (EAS) AF: 0.273 AC: 1412 AN: 5174

South Asian (SAS) AF: 0.336 AC: 1620 AN: 4816

European-Finnish (FIN) AF: 0.692 AC: 7326 AN: 10588

Middle Eastern (MID) AF: 0.634 AC: 185 AN: 292

European-Non Finnish (NFE) AF: 0.635 AC: 43170 AN: 67996

Other (OTH) AF: 0.631 AC: 1334 AN: 2114

Alfa AF: 0.630 Hom.: 71799

Bravo AF: 0.631

Asia WGS AF: 0.375 AC: 1305 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	1.5
DANN	Benign	0.42
PhyloP100		0.97

Splicing

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

Other links and lift over

dbSNP: rs6967345; hg19: chr7-53156188;