rs11975227

Variant names:

• chr7-36078333-G-A
• rs11975227

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 0.457 in 151,978 control chromosomes in the GnomAD database, including 17,402 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 0.46 (17402 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.365
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.623 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: 0.457 AC: 69387 AN: 151862 Hom.: 17386 Cov.: 31

Gnomad AFR AF: 0.255

Gnomad AMI AF: 0.615

Gnomad AMR AF: 0.633

Gnomad ASJ AF: 0.514

Gnomad EAS AF: 0.329

Gnomad SAS AF: 0.388

Gnomad FIN AF: 0.545

Gnomad MID AF: 0.459

Gnomad NFE AF: 0.535

Gnomad OTH AF: 0.474

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

GnomAD4 genome AF: 0.457 AC: 69434 AN: 151978 Hom.: 17402 Cov.: 31 AF XY: 0.460 AC XY: 34159 AN XY: 74254

African (AFR) AF: 0.256 AC: 10600 AN: 41454

American (AMR) AF: 0.634 AC: 9681 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.514 AC: 1780 AN: 3466

East Asian (EAS) AF: 0.329 AC: 1697 AN: 5160

South Asian (SAS) AF: 0.388 AC: 1870 AN: 4818

European-Finnish (FIN) AF: 0.545 AC: 5745 AN: 10550

Middle Eastern (MID) AF: 0.466 AC: 136 AN: 292

European-Non Finnish (NFE) AF: 0.535 AC: 36378 AN: 67946

Other (OTH) AF: 0.470 AC: 989 AN: 2106

Alfa AF: 0.514 Hom.: 26936

Bravo AF: 0.457

Asia WGS AF: 0.364 AC: 1269 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	3.6
DANN	Benign	0.30
PhyloP100		0.36

Splicing

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

Other links and lift over

dbSNP: rs11975227; hg19: chr7-36117943;