rs7327514

chr13-78861964-C-Achr13-78861964-C-Gchr13-78861964-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 0.873 in 152,114 control chromosomes in the GnomAD database, including 59,105 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 0.87 (59105 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0410

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.76).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.972 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.873 AC: 132697 AN: 151998 Hom.: 59098 Cov.: 32

Gnomad AFR AF: 0.675

Gnomad AMI AF: 0.947

Gnomad AMR AF: 0.925

Gnomad ASJ AF: 0.948

Gnomad EAS AF: 0.995

Gnomad SAS AF: 0.952

Gnomad FIN AF: 0.971

Gnomad MID AF: 0.953

Gnomad NFE AF: 0.946

Gnomad OTH AF: 0.890

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

GnomAD4 genome AF: 0.873 AC: 132737 AN: 152114 Hom.: 59105 Cov.: 32 AF XY: 0.877 AC XY: 65230 AN XY: 74390

Gnomad4 AFR AF: 0.675

Gnomad4 AMR AF: 0.925

Gnomad4 ASJ AF: 0.948

Gnomad4 EAS AF: 0.995

Gnomad4 SAS AF: 0.951

Gnomad4 FIN AF: 0.971

Gnomad4 NFE AF: 0.946

Gnomad4 OTH AF: 0.889

Alfa AF: 0.935 Hom.: 96115

Bravo AF: 0.862

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.76
Cadd	Benign	2.7
Dann	Benign	0.66

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs7327514; hg19: chr13-79436099;