rs6582071

Variant names:

• chr12-71936332-G-A
• rs6582071

Your query was ambiguous. Multiple possible variants found:

• chr12-71936332-G-A
• chr12-71936332-G-C
• chr12-71936332-G-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 0.317 in 151,934 control chromosomes in the GnomAD database, including 8,923 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 0.32 (8923 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.245
• Publications: 14 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 = 0.526 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: 0.317 AC: 48151 AN: 151816 Hom.: 8910 Cov.: 32

Gnomad AFR AF: 0.493

Gnomad AMI AF: 0.260

Gnomad AMR AF: 0.308

Gnomad ASJ AF: 0.243

Gnomad EAS AF: 0.543

Gnomad SAS AF: 0.288

Gnomad FIN AF: 0.190

Gnomad MID AF: 0.242

Gnomad NFE AF: 0.222

Gnomad OTH AF: 0.299

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

GnomAD4 genome AF: 0.317 AC: 48203 AN: 151934 Hom.: 8923 Cov.: 32 AF XY: 0.316 AC XY: 23476 AN XY: 74274

African (AFR) AF: 0.493 AC: 20402 AN: 41414

American (AMR) AF: 0.308 AC: 4711 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.243 AC: 844 AN: 3468

East Asian (EAS) AF: 0.543 AC: 2805 AN: 5168

South Asian (SAS) AF: 0.287 AC: 1380 AN: 4808

European-Finnish (FIN) AF: 0.190 AC: 2006 AN: 10550

Middle Eastern (MID) AF: 0.236 AC: 69 AN: 292

European-Non Finnish (NFE) AF: 0.222 AC: 15113 AN: 67938

Other (OTH) AF: 0.301 AC: 636 AN: 2110

Alfa AF: 0.321 Hom.: 3200

Bravo AF: 0.336

Asia WGS AF: 0.409 AC: 1424 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	2.2
DANN	Benign	0.47
PhyloP100		-0.24

Splicing

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

Other links and lift over

dbSNP: rs6582071; hg19: chr12-72330112;