rs6907703

Variant names:

• chr6-76468633-A-G
• rs6907703

Your query was ambiguous. Multiple possible variants found:

• chr6-76468633-A-G
• chr6-76468633-A-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 0.393 in 152,062 control chromosomes in the GnomAD database, including 12,848 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 0.39 (12848 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.405
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.571 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: 0.393 AC: 59641 AN: 151942 Hom.: 12834 Cov.: 32

Gnomad AFR AF: 0.577

Gnomad AMI AF: 0.216

Gnomad AMR AF: 0.360

Gnomad ASJ AF: 0.255

Gnomad EAS AF: 0.464

Gnomad SAS AF: 0.358

Gnomad FIN AF: 0.356

Gnomad MID AF: 0.361

Gnomad NFE AF: 0.301

Gnomad OTH AF: 0.359

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

GnomAD4 genome AF: 0.393 AC: 59691 AN: 152062 Hom.: 12848 Cov.: 32 AF XY: 0.394 AC XY: 29259 AN XY: 74312

African (AFR) AF: 0.577 AC: 23947 AN: 41486

American (AMR) AF: 0.359 AC: 5492 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.255 AC: 885 AN: 3464

East Asian (EAS) AF: 0.463 AC: 2391 AN: 5160

South Asian (SAS) AF: 0.358 AC: 1722 AN: 4816

European-Finnish (FIN) AF: 0.356 AC: 3762 AN: 10560

Middle Eastern (MID) AF: 0.371 AC: 109 AN: 294

European-Non Finnish (NFE) AF: 0.301 AC: 20436 AN: 67968

Other (OTH) AF: 0.355 AC: 750 AN: 2112

Alfa AF: 0.217 Hom.: 508

Bravo AF: 0.399

Asia WGS AF: 0.433 AC: 1505 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	3.6
DANN	Benign	0.62
PhyloP100		-0.41

Splicing

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

Other links and lift over

dbSNP: rs6907703; hg19: chr6-77178350;