rs1037791

Variant names:

• chr7-16785037-G-A
• rs1037791

Your query was ambiguous. Multiple possible variants found:

• chr7-16785037-G-A
• chr7-16785037-G-C

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 0.71 in 152,004 control chromosomes in the GnomAD database, including 38,454 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 0.71 (38454 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.57
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.74 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: 0.710 AC: 107820 AN: 151886 Hom.: 38439 Cov.: 32

Gnomad AFR AF: 0.642

Gnomad AMI AF: 0.796

Gnomad AMR AF: 0.747

Gnomad ASJ AF: 0.808

Gnomad EAS AF: 0.718

Gnomad SAS AF: 0.738

Gnomad FIN AF: 0.627

Gnomad MID AF: 0.835

Gnomad NFE AF: 0.746

Gnomad OTH AF: 0.736

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

GnomAD4 genome AF: 0.710 AC: 107889 AN: 152004 Hom.: 38454 Cov.: 32 AF XY: 0.708 AC XY: 52609 AN XY: 74312

African (AFR) AF: 0.641 AC: 26574 AN: 41426

American (AMR) AF: 0.748 AC: 11430 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.808 AC: 2803 AN: 3470

East Asian (EAS) AF: 0.717 AC: 3699 AN: 5156

South Asian (SAS) AF: 0.739 AC: 3560 AN: 4820

European-Finnish (FIN) AF: 0.627 AC: 6626 AN: 10568

Middle Eastern (MID) AF: 0.833 AC: 245 AN: 294

European-Non Finnish (NFE) AF: 0.746 AC: 50686 AN: 67964

Other (OTH) AF: 0.731 AC: 1540 AN: 2108

Alfa AF: 0.737 Hom.: 116271

Bravo AF: 0.715

Asia WGS AF: 0.703 AC: 2444 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.055
DANN	Benign	0.24
PhyloP100		-1.6

Splicing

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

Other links and lift over

dbSNP: rs1037791; hg19: chr7-16824662;