rs6576132

Variant names:

• chr14-28258905-C-A
• rs6576132

Your query was ambiguous. Multiple possible variants found:

• chr14-28258905-C-A
• chr14-28258905-C-G
• chr14-28258905-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 0.486 in 151,874 control chromosomes in the GnomAD database, including 18,256 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 0.49 (18256 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.12
• Publications: 4 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.636 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.486 AC: 73715 AN: 151758 Hom.: 18234 Cov.: 32

Gnomad AFR AF: 0.562

Gnomad AMI AF: 0.432

Gnomad AMR AF: 0.366

Gnomad ASJ AF: 0.373

Gnomad EAS AF: 0.654

Gnomad SAS AF: 0.372

Gnomad FIN AF: 0.508

Gnomad MID AF: 0.391

Gnomad NFE AF: 0.466

Gnomad OTH AF: 0.466

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

GnomAD4 genome AF: 0.486 AC: 73790 AN: 151874 Hom.: 18256 Cov.: 32 AF XY: 0.482 AC XY: 35810 AN XY: 74236

African (AFR) AF: 0.562 AC: 23295 AN: 41426

American (AMR) AF: 0.366 AC: 5579 AN: 15262

Ashkenazi Jewish (ASJ) AF: 0.373 AC: 1293 AN: 3464

East Asian (EAS) AF: 0.655 AC: 3380 AN: 5164

South Asian (SAS) AF: 0.370 AC: 1777 AN: 4808

European-Finnish (FIN) AF: 0.508 AC: 5335 AN: 10506

Middle Eastern (MID) AF: 0.410 AC: 119 AN: 290

European-Non Finnish (NFE) AF: 0.466 AC: 31632 AN: 67938

Other (OTH) AF: 0.469 AC: 987 AN: 2106

Alfa AF: 0.425 Hom.: 3438

Bravo AF: 0.482

Asia WGS AF: 0.530 AC: 1834 AN: 3462

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	1.2
DANN	Benign	0.44
PhyloP100		-1.1

Splicing

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

Other links and lift over

dbSNP: rs6576132; hg19: chr14-28728111;