rs6965913

Variant names:

• chr7-54503705-C-A
• rs6965913

Your query was ambiguous. Multiple possible variants found:

• chr7-54503705-C-A
• chr7-54503705-C-G
• chr7-54503705-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 0.177 in 152,038 control chromosomes in the GnomAD database, including 2,794 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 0.18 (2794 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: No conservation score assigned
• Publications: 1 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 (EAS) allele frequency at 95% confidence interval = 0.318 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.177 AC: 26863 AN: 151920 Hom.: 2790 Cov.: 32

Gnomad AFR AF: 0.242

Gnomad AMI AF: 0.0855

Gnomad AMR AF: 0.240

Gnomad ASJ AF: 0.148

Gnomad EAS AF: 0.331

Gnomad SAS AF: 0.248

Gnomad FIN AF: 0.152

Gnomad MID AF: 0.111

Gnomad NFE AF: 0.113

Gnomad OTH AF: 0.166

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

GnomAD4 genome AF: 0.177 AC: 26884 AN: 152038 Hom.: 2794 Cov.: 32 AF XY: 0.182 AC XY: 13526 AN XY: 74334

African (AFR) AF: 0.242 AC: 10021 AN: 41438

American (AMR) AF: 0.241 AC: 3674 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.148 AC: 513 AN: 3468

East Asian (EAS) AF: 0.331 AC: 1702 AN: 5140

South Asian (SAS) AF: 0.248 AC: 1195 AN: 4824

European-Finnish (FIN) AF: 0.152 AC: 1609 AN: 10576

Middle Eastern (MID) AF: 0.109 AC: 32 AN: 294

European-Non Finnish (NFE) AF: 0.113 AC: 7704 AN: 67996

Other (OTH) AF: 0.168 AC: 356 AN: 2114

Alfa AF: 0.0562 Hom.: 52

Bravo AF: 0.186

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	3.7
DANN	Benign	0.75

Splicing

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

Other links and lift over

dbSNP: rs6965913; hg19: chr7-54571398;