rs17430337

Variant names:

• chr6-102523371-G-A
• rs17430337

Your query was ambiguous. Multiple possible variants found:

• chr6-102523371-G-A
• chr6-102523371-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 0.0388 in 151,972 control chromosomes in the GnomAD database, including 149 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 0.039 (149 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0760
• Publications: 4 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 (AFR) allele frequency at 95% confidence interval = 0.052 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Frequencies

GnomAD3 genomes AF: 0.0388 AC: 5888 AN: 151854 Hom.: 149 Cov.: 32

Gnomad AFR AF: 0.0540

Gnomad AMI AF: 0.0110

Gnomad AMR AF: 0.0221

Gnomad ASJ AF: 0.0179

Gnomad EAS AF: 0.000194

Gnomad SAS AF: 0.0288

Gnomad FIN AF: 0.0251

Gnomad MID AF: 0.00949

Gnomad NFE AF: 0.0408

Gnomad OTH AF: 0.0306

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

GnomAD4 genome AF: 0.0388 AC: 5894 AN: 151972 Hom.: 149 Cov.: 32 AF XY: 0.0367 AC XY: 2724 AN XY: 74272

African (AFR) AF: 0.0539 AC: 2237 AN: 41512

American (AMR) AF: 0.0221 AC: 336 AN: 15232

Ashkenazi Jewish (ASJ) AF: 0.0179 AC: 62 AN: 3462

East Asian (EAS) AF: 0.000194 AC: 1 AN: 5144

South Asian (SAS) AF: 0.0294 AC: 142 AN: 4824

European-Finnish (FIN) AF: 0.0251 AC: 266 AN: 10594

Middle Eastern (MID) AF: 0.0136 AC: 4 AN: 294

European-Non Finnish (NFE) AF: 0.0408 AC: 2772 AN: 67884

Other (OTH) AF: 0.0303 AC: 64 AN: 2114

Alfa AF: 0.0399 Hom.: 426

Bravo AF: 0.0406

Asia WGS AF: 0.0140 AC: 50 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.73
DANN	Benign	0.41
PhyloP100		0.076

Splicing

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

Other links and lift over

dbSNP: rs17430337; hg19: chr6-102971246;