rs2913036

Variant names:

• chr7-52785747-A-C
• rs2913036

Your query was ambiguous. Multiple possible variants found:

• chr7-52785747-A-C
• chr7-52785747-A-G

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 0.122 in 152,114 control chromosomes in the GnomAD database, including 1,211 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 0.12 (1211 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.745
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.181 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: 0.122 AC: 18541 AN: 151996 Hom.: 1207 Cov.: 32

Gnomad AFR AF: 0.184

Gnomad AMI AF: 0.0822

Gnomad AMR AF: 0.114

Gnomad ASJ AF: 0.0781

Gnomad EAS AF: 0.119

Gnomad SAS AF: 0.100

Gnomad FIN AF: 0.143

Gnomad MID AF: 0.0696

Gnomad NFE AF: 0.0881

Gnomad OTH AF: 0.105

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

GnomAD4 genome AF: 0.122 AC: 18579 AN: 152114 Hom.: 1211 Cov.: 32 AF XY: 0.123 AC XY: 9138 AN XY: 74346

African (AFR) AF: 0.184 AC: 7650 AN: 41500

American (AMR) AF: 0.114 AC: 1742 AN: 15254

Ashkenazi Jewish (ASJ) AF: 0.0781 AC: 271 AN: 3470

East Asian (EAS) AF: 0.118 AC: 613 AN: 5176

South Asian (SAS) AF: 0.100 AC: 482 AN: 4820

European-Finnish (FIN) AF: 0.143 AC: 1516 AN: 10580

Middle Eastern (MID) AF: 0.0714 AC: 21 AN: 294

European-Non Finnish (NFE) AF: 0.0881 AC: 5988 AN: 67998

Other (OTH) AF: 0.105 AC: 221 AN: 2110

Alfa AF: 0.0879 Hom.: 406

Bravo AF: 0.123

Asia WGS AF: 0.112 AC: 392 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	0.53
DANN	Benign	0.72
PhyloP100		-0.74

Splicing

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

Other links and lift over

dbSNP: rs2913036; hg19: chr7-52853441;