rs2367737

Variant names:

• chr7-81695070-C-G
• rs2367737

Your query was ambiguous. Multiple possible variants found:

• chr7-81695070-C-G
• chr7-81695070-C-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 0.739 in 152,022 control chromosomes in the GnomAD database, including 42,852 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 0.74 (42852 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0520

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.849 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: 0.740 AC: 112336 AN: 151904 Hom.: 42836 Cov.: 33

Gnomad AFR AF: 0.537

Gnomad AMI AF: 0.736

Gnomad AMR AF: 0.826

Gnomad ASJ AF: 0.878

Gnomad EAS AF: 0.858

Gnomad SAS AF: 0.871

Gnomad FIN AF: 0.808

Gnomad MID AF: 0.892

Gnomad NFE AF: 0.805

Gnomad OTH AF: 0.778

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

GnomAD4 genome AF: 0.739 AC: 112393 AN: 152022 Hom.: 42852 Cov.: 33 AF XY: 0.743 AC XY: 55228 AN XY: 74318

Gnomad4 AFR AF: 0.537

Gnomad4 AMR AF: 0.826

Gnomad4 ASJ AF: 0.878

Gnomad4 EAS AF: 0.858

Gnomad4 SAS AF: 0.871

Gnomad4 FIN AF: 0.808

Gnomad4 NFE AF: 0.805

Gnomad4 OTH AF: 0.775

Alfa AF: 0.772 Hom.: 5436

Bravo AF: 0.730

Asia WGS AF: 0.831 AC: 2887 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	2.0
DANN	Benign	0.49

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2367737; hg19: chr7-81324386;