rs2844479

Variant names:

• chr6-31605179-A-C
• rs2844479

Your query was ambiguous. Multiple possible variants found:

• chr6-31605179-A-C
• chr6-31605179-A-G
• chr6-31605179-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 0.341 in 151,628 control chromosomes in the GnomAD database, including 9,238 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 0.34 (9238 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.468

ACMG classification

Verdict is Benign. Variant got -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 = 0.442 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: 0.342 AC: 51752 AN: 151510 Hom.: 9241 Cov.: 30

Gnomad AFR AF: 0.286

Gnomad AMI AF: 0.365

Gnomad AMR AF: 0.403

Gnomad ASJ AF: 0.590

Gnomad EAS AF: 0.458

Gnomad SAS AF: 0.334

Gnomad FIN AF: 0.288

Gnomad MID AF: 0.516

Gnomad NFE AF: 0.346

Gnomad OTH AF: 0.393

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

GnomAD4 genome AF: 0.341 AC: 51767 AN: 151628 Hom.: 9238 Cov.: 30 AF XY: 0.341 AC XY: 25286 AN XY: 74074

Gnomad4 AFR AF: 0.286

Gnomad4 AMR AF: 0.403

Gnomad4 ASJ AF: 0.590

Gnomad4 EAS AF: 0.458

Gnomad4 SAS AF: 0.334

Gnomad4 FIN AF: 0.288

Gnomad4 NFE AF: 0.346

Gnomad4 OTH AF: 0.392

Alfa AF: 0.373 Hom.: 14946

Bravo AF: 0.349

Asia WGS AF: 0.376 AC: 1311 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	5.1
DANN	Benign	0.66

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2844479; hg19: chr6-31572956;