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. The variant received -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
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

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

African (AFR) AF: 0.675 AC: 27960 AN: 41448

American (AMR) AF: 0.925 AC: 14141 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.948 AC: 3291 AN: 3472

East Asian (EAS) AF: 0.995 AC: 5159 AN: 5184

South Asian (SAS) AF: 0.951 AC: 4591 AN: 4826

European-Finnish (FIN) AF: 0.971 AC: 10286 AN: 10590

Middle Eastern (MID) AF: 0.949 AC: 279 AN: 294

European-Non Finnish (NFE) AF: 0.946 AC: 64291 AN: 67986

Other (OTH) AF: 0.889 AC: 1875 AN: 2110

Alfa AF: 0.920 Hom.: 172039

Bravo AF: 0.862

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.76
CADD	Benign	2.7
DANN	Benign	0.66
PhyloP100		-0.041

Splicing

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

Other links and lift over

dbSNP: rs7327514; hg19: chr13-79436099;