rs6813479

Variant names:

• chr4-136739228-T-A
• rs6813479

Your query was ambiguous. Multiple possible variants found:

• chr4-136739228-T-A
• chr4-136739228-T-C
• chr4-136739228-T-G

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 0.526 in 151,916 control chromosomes in the GnomAD database, including 22,011 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 0.53 (22011 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.677

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.653 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: 0.527 AC: 79939 AN: 151798 Hom.: 21996 Cov.: 32

Gnomad AFR AF: 0.361

Gnomad AMI AF: 0.470

Gnomad AMR AF: 0.645

Gnomad ASJ AF: 0.474

Gnomad EAS AF: 0.662

Gnomad SAS AF: 0.674

Gnomad FIN AF: 0.621

Gnomad MID AF: 0.465

Gnomad NFE AF: 0.569

Gnomad OTH AF: 0.522

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

GnomAD4 genome AF: 0.526 AC: 79982 AN: 151916 Hom.: 22011 Cov.: 32 AF XY: 0.534 AC XY: 39678 AN XY: 74252

Gnomad4 AFR AF: 0.360

Gnomad4 AMR AF: 0.646

Gnomad4 ASJ AF: 0.474

Gnomad4 EAS AF: 0.661

Gnomad4 SAS AF: 0.672

Gnomad4 FIN AF: 0.621

Gnomad4 NFE AF: 0.569

Gnomad4 OTH AF: 0.528

Alfa AF: 0.549 Hom.: 11914

Bravo AF: 0.519

Asia WGS AF: 0.682 AC: 2366 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	3.2
DANN	Benign	0.30

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6813479; hg19: chr4-137660383;