rs7044355

Variant names:

• chr9-8196511-G-A
• rs7044355

Your query was ambiguous. Multiple possible variants found:

• chr9-8196511-G-A
• chr9-8196511-G-C
• chr9-8196511-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 0.581 in 151,800 control chromosomes in the GnomAD database, including 26,363 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 0.58 (26363 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.539
• Publications: 12 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• 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: 0.581 AC: 88135 AN: 151682 Hom.: 26304 Cov.: 30

Gnomad AFR AF: 0.720

Gnomad AMI AF: 0.608

Gnomad AMR AF: 0.532

Gnomad ASJ AF: 0.549

Gnomad EAS AF: 0.636

Gnomad SAS AF: 0.519

Gnomad FIN AF: 0.580

Gnomad MID AF: 0.535

Gnomad NFE AF: 0.510

Gnomad OTH AF: 0.563

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

GnomAD4 genome AF: 0.581 AC: 88255 AN: 151800 Hom.: 26363 Cov.: 30 AF XY: 0.582 AC XY: 43148 AN XY: 74158

African (AFR) AF: 0.721 AC: 29835 AN: 41408

American (AMR) AF: 0.532 AC: 8110 AN: 15242

Ashkenazi Jewish (ASJ) AF: 0.549 AC: 1906 AN: 3470

East Asian (EAS) AF: 0.637 AC: 3271 AN: 5138

South Asian (SAS) AF: 0.520 AC: 2497 AN: 4798

European-Finnish (FIN) AF: 0.580 AC: 6101 AN: 10522

Middle Eastern (MID) AF: 0.544 AC: 160 AN: 294

European-Non Finnish (NFE) AF: 0.510 AC: 34627 AN: 67910

Other (OTH) AF: 0.567 AC: 1196 AN: 2110

Alfa AF: 0.530 Hom.: 78560

Bravo AF: 0.584

Asia WGS AF: 0.611 AC: 2127 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.48
DANN	Benign	0.54
PhyloP100		-0.54

Splicing

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

Other links and lift over

dbSNP: rs7044355; hg19: chr9-8196511; COSMIC: COSV60327950;