rs1362136

Variant names:

• chr7-2465932-G-A
• rs1362136

Your query was ambiguous. Multiple possible variants found:

• chr7-2465932-G-A
• chr7-2465932-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 0.388 in 152,052 control chromosomes in the GnomAD database, including 13,338 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 0.39 (13338 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0990
• Publications: 4 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 (EAS) allele frequency at 95% confidence interval = 0.77 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: 0.388 AC: 58925 AN: 151934 Hom.: 13335 Cov.: 31

Gnomad AFR AF: 0.587

Gnomad AMI AF: 0.251

Gnomad AMR AF: 0.368

Gnomad ASJ AF: 0.284

Gnomad EAS AF: 0.790

Gnomad SAS AF: 0.371

Gnomad FIN AF: 0.265

Gnomad MID AF: 0.430

Gnomad NFE AF: 0.268

Gnomad OTH AF: 0.366

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

GnomAD4 genome AF: 0.388 AC: 58958 AN: 152052 Hom.: 13338 Cov.: 31 AF XY: 0.389 AC XY: 28931 AN XY: 74328

African (AFR) AF: 0.586 AC: 24324 AN: 41474

American (AMR) AF: 0.368 AC: 5617 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.284 AC: 985 AN: 3470

East Asian (EAS) AF: 0.790 AC: 4084 AN: 5170

South Asian (SAS) AF: 0.371 AC: 1787 AN: 4814

European-Finnish (FIN) AF: 0.265 AC: 2804 AN: 10564

Middle Eastern (MID) AF: 0.432 AC: 127 AN: 294

European-Non Finnish (NFE) AF: 0.268 AC: 18236 AN: 67972

Other (OTH) AF: 0.363 AC: 766 AN: 2112

Alfa AF: 0.309 Hom.: 31544

Bravo AF: 0.408

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	3.1
DANN	Benign	0.39
PhyloP100		-0.099

Splicing

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

Other links and lift over

dbSNP: rs1362136; hg19: chr7-2505567;