rs6448771

Variant names:

• chr4-31395996-G-A
• rs6448771

Your query was ambiguous. Multiple possible variants found:

• chr4-31395996-G-A
• chr4-31395996-G-C
• chr4-31395996-G-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 0.693 in 152,046 control chromosomes in the GnomAD database, including 37,795 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 0.69 (37795 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.30

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.831 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: 0.693 AC: 105244 AN: 151928 Hom.: 37743 Cov.: 32

Gnomad AFR AF: 0.838

Gnomad AMI AF: 0.808

Gnomad AMR AF: 0.536

Gnomad ASJ AF: 0.777

Gnomad EAS AF: 0.295

Gnomad SAS AF: 0.564

Gnomad FIN AF: 0.630

Gnomad MID AF: 0.665

Gnomad NFE AF: 0.684

Gnomad OTH AF: 0.685

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

GnomAD4 genome AF: 0.693 AC: 105348 AN: 152046 Hom.: 37795 Cov.: 32 AF XY: 0.682 AC XY: 50677 AN XY: 74298

Gnomad4 AFR AF: 0.838

Gnomad4 AMR AF: 0.535

Gnomad4 ASJ AF: 0.777

Gnomad4 EAS AF: 0.294

Gnomad4 SAS AF: 0.564

Gnomad4 FIN AF: 0.630

Gnomad4 NFE AF: 0.684

Gnomad4 OTH AF: 0.685

Alfa AF: 0.683 Hom.: 54805

Bravo AF: 0.692

Asia WGS AF: 0.461 AC: 1603 AN: 3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.37
DANN	Benign	0.38

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6448771; hg19: chr4-31397618;