rs370834

Variant names:

• chr6-169395512-A-C
• rs370834

Your query was ambiguous. Multiple possible variants found:

• chr6-169395512-A-C
• chr6-169395512-A-G
• chr6-169395512-A-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.889 in 152,274 control chromosomes in the GnomAD database, including 60,456 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 0.89 (60456 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.65
• Publications: 3 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.976 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: 0.888 AC: 135183 AN: 152154 Hom.: 60391 Cov.: 33

Gnomad AFR AF: 0.969

Gnomad AMI AF: 0.854

Gnomad AMR AF: 0.897

Gnomad ASJ AF: 0.855

Gnomad EAS AF: 0.999

Gnomad SAS AF: 0.948

Gnomad FIN AF: 0.866

Gnomad MID AF: 0.842

Gnomad NFE AF: 0.831

Gnomad OTH AF: 0.873

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

GnomAD4 genome AF: 0.889 AC: 135309 AN: 152274 Hom.: 60456 Cov.: 33 AF XY: 0.893 AC XY: 66482 AN XY: 74450

African (AFR) AF: 0.969 AC: 40279 AN: 41564

American (AMR) AF: 0.897 AC: 13723 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.855 AC: 2970 AN: 3472

East Asian (EAS) AF: 0.999 AC: 5165 AN: 5170

South Asian (SAS) AF: 0.948 AC: 4573 AN: 4826

European-Finnish (FIN) AF: 0.866 AC: 9190 AN: 10612

Middle Eastern (MID) AF: 0.837 AC: 246 AN: 294

European-Non Finnish (NFE) AF: 0.831 AC: 56537 AN: 68018

Other (OTH) AF: 0.875 AC: 1849 AN: 2112

Alfa AF: 0.839 Hom.: 58724

Bravo AF: 0.893

Asia WGS AF: 0.973 AC: 3385 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.15
DANN	Benign	0.38
PhyloP100		-1.7

Splicing

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

Other links and lift over

dbSNP: rs370834; hg19: chr6-169795607;