rs6537835

Variant names:

• chr1-114566293-G-A
• rs6537835

Your query was ambiguous. Multiple possible variants found:

• chr1-114566293-G-A
• chr1-114566293-G-C

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 0.798 in 152,014 control chromosomes in the GnomAD database, including 49,751 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 0.80 (49751 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0320
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.914 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: 0.799 AC: 121318 AN: 151896 Hom.: 49739 Cov.: 33

Gnomad AFR AF: 0.647

Gnomad AMI AF: 0.872

Gnomad AMR AF: 0.760

Gnomad ASJ AF: 0.893

Gnomad EAS AF: 0.587

Gnomad SAS AF: 0.623

Gnomad FIN AF: 0.812

Gnomad MID AF: 0.822

Gnomad NFE AF: 0.920

Gnomad OTH AF: 0.809

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

GnomAD4 genome AF: 0.798 AC: 121375 AN: 152014 Hom.: 49751 Cov.: 33 AF XY: 0.790 AC XY: 58716 AN XY: 74286

African (AFR) AF: 0.647 AC: 26784 AN: 41416

American (AMR) AF: 0.759 AC: 11605 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.893 AC: 3098 AN: 3468

East Asian (EAS) AF: 0.587 AC: 3027 AN: 5160

South Asian (SAS) AF: 0.622 AC: 3001 AN: 4824

European-Finnish (FIN) AF: 0.812 AC: 8578 AN: 10562

Middle Eastern (MID) AF: 0.808 AC: 236 AN: 292

European-Non Finnish (NFE) AF: 0.920 AC: 62553 AN: 67988

Other (OTH) AF: 0.805 AC: 1698 AN: 2110

Alfa AF: 0.872 Hom.: 11870

Bravo AF: 0.789

Asia WGS AF: 0.599 AC: 2087 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	3.8
DANN	Benign	0.56
PhyloP100		-0.032

Splicing

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

Other links and lift over

dbSNP: rs6537835; hg19: chr1-115108914;