rs7044355

chr9-8196511-G-Achr9-8196511-G-Cchr9-8196511-G-T

Variant summary

Our verdict is Benign. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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

Gnomad4 AFR AF: 0.721

Gnomad4 AMR AF: 0.532

Gnomad4 ASJ AF: 0.549

Gnomad4 EAS AF: 0.637

Gnomad4 SAS AF: 0.520

Gnomad4 FIN AF: 0.580

Gnomad4 NFE AF: 0.510

Gnomad4 OTH AF: 0.567

Alfa AF: 0.517 Hom.: 46886

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

Splicing

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

Publications

LitVar

Other links and lift over

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