rs6457327

Variant names:

• chr6-31106253-A-C
• rs6457327

Your query was ambiguous. Multiple possible variants found:

• chr6-31106253-A-C
• chr6-31106253-A-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 0.656 in 151,988 control chromosomes in the GnomAD database, including 33,023 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 0.66 (33023 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.34

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.715 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: 0.656 AC: 99666 AN: 151870 Hom.: 32989 Cov.: 31

Gnomad AFR AF: 0.721

Gnomad AMI AF: 0.734

Gnomad AMR AF: 0.609

Gnomad ASJ AF: 0.846

Gnomad EAS AF: 0.644

Gnomad SAS AF: 0.729

Gnomad FIN AF: 0.606

Gnomad MID AF: 0.812

Gnomad NFE AF: 0.618

Gnomad OTH AF: 0.696

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

GnomAD4 genome AF: 0.656 AC: 99741 AN: 151988 Hom.: 33023 Cov.: 31 AF XY: 0.655 AC XY: 48639 AN XY: 74264

Gnomad4 AFR AF: 0.722

Gnomad4 AMR AF: 0.609

Gnomad4 ASJ AF: 0.846

Gnomad4 EAS AF: 0.644

Gnomad4 SAS AF: 0.729

Gnomad4 FIN AF: 0.606

Gnomad4 NFE AF: 0.618

Gnomad4 OTH AF: 0.691

Alfa AF: 0.637 Hom.: 34561

Bravo AF: 0.658

Asia WGS AF: 0.670 AC: 2332 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	1.8
DANN	Benign	0.75

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6457327; hg19: chr6-31074030;