rs734674

Variant names:

• chr6-279695-C-G
• rs734674

Variant summary

Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BP4_Strong BS2

The variant allele was found at a frequency of 0.0788 in 150,482 control chromosomes in the GnomAD database, including 124 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 0.079 (124 hom., cov: 44)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0110
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -8 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BS2: High Homozygotes in GnomAd4 at 124 gene

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: 0.0788 AC: 11854 AN: 150372 Hom.: 124 Cov.: 44

Gnomad AFR AF: 0.0638

Gnomad AMI AF: 0.104

Gnomad AMR AF: 0.0546

Gnomad ASJ AF: 0.110

Gnomad EAS AF: 0.0637

Gnomad SAS AF: 0.0776

Gnomad FIN AF: 0.0967

Gnomad MID AF: 0.0637

Gnomad NFE AF: 0.0900

Gnomad OTH AF: 0.0794

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

GnomAD4 genome AF: 0.0788 AC: 11860 AN: 150482 Hom.: 124 Cov.: 44 AF XY: 0.0780 AC XY: 5735 AN XY: 73558

⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5.

African (AFR) AF: 0.0637 AC: 2605 AN: 40880

American (AMR) AF: 0.0546 AC: 829 AN: 15194

Ashkenazi Jewish (ASJ) AF: 0.110 AC: 376 AN: 3430

East Asian (EAS) AF: 0.0635 AC: 325 AN: 5122

South Asian (SAS) AF: 0.0773 AC: 366 AN: 4736

European-Finnish (FIN) AF: 0.0967 AC: 1012 AN: 10464

Middle Eastern (MID) AF: 0.0651 AC: 19 AN: 292

European-Non Finnish (NFE) AF: 0.0900 AC: 6063 AN: 67368

Other (OTH) AF: 0.0819 AC: 171 AN: 2088

⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5. (p-value = 0), which strongly suggests a high chance of mosaicism in these individuals.

Alfa AF: 0.0780 Hom.: 21

Asia WGS AF: 0.0860 AC: 297 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	6.6
DANN	Benign	0.58
PhyloP100		0.011

Splicing

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

Other links and lift over

dbSNP: rs734674; hg19: chr6-279695;