rs7327514

Variant names:

• chr13-78861964-C-A
• rs7327514

Your query was ambiguous. Multiple possible variants found:

• chr13-78861964-C-A
• chr13-78861964-C-G
• chr13-78861964-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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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;