rs6835946

Variant names:

• chr4-122148684-G-A
• rs6835946

Your query was ambiguous. Multiple possible variants found:

• chr4-122148684-G-A
• chr4-122148684-G-C

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 0.249 in 152,030 control chromosomes in the GnomAD database, including 5,695 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 0.25 (5695 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.469

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.86).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.466 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: 0.249 AC: 37805 AN: 151912 Hom.: 5684 Cov.: 32

Gnomad AFR AF: 0.0736

Gnomad AMI AF: 0.345

Gnomad AMR AF: 0.295

Gnomad ASJ AF: 0.419

Gnomad EAS AF: 0.366

Gnomad SAS AF: 0.480

Gnomad FIN AF: 0.295

Gnomad MID AF: 0.484

Gnomad NFE AF: 0.300

Gnomad OTH AF: 0.294

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

GnomAD4 genome AF: 0.249 AC: 37838 AN: 152030 Hom.: 5695 Cov.: 32 AF XY: 0.255 AC XY: 18917 AN XY: 74290

Gnomad4 AFR AF: 0.0737

Gnomad4 AMR AF: 0.295

Gnomad4 ASJ AF: 0.419

Gnomad4 EAS AF: 0.367

Gnomad4 SAS AF: 0.482

Gnomad4 FIN AF: 0.295

Gnomad4 NFE AF: 0.300

Gnomad4 OTH AF: 0.299

Alfa AF: 0.302 Hom.: 3575

Bravo AF: 0.238

Asia WGS AF: 0.406 AC: 1414 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	5.7
DANN	Benign	0.70

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6835946; hg19: chr4-123069839;