rs10512437

Variant names:

• chr17-31695334-G-A
• rs10512437

Your query was ambiguous. Multiple possible variants found:

• chr17-31695334-G-A
• chr17-31695334-G-C
• chr17-31695334-G-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 0.231 in 151,786 control chromosomes in the GnomAD database, including 4,608 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 0.23 (4608 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.200
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.298 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.231 AC: 35051 AN: 151670 Hom.: 4608 Cov.: 31

Gnomad AFR AF: 0.128

Gnomad AMI AF: 0.210

Gnomad AMR AF: 0.170

Gnomad ASJ AF: 0.231

Gnomad EAS AF: 0.200

Gnomad SAS AF: 0.0970

Gnomad FIN AF: 0.342

Gnomad MID AF: 0.203

Gnomad NFE AF: 0.302

Gnomad OTH AF: 0.248

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

GnomAD4 genome AF: 0.231 AC: 35059 AN: 151786 Hom.: 4608 Cov.: 31 AF XY: 0.228 AC XY: 16887 AN XY: 74136

African (AFR) AF: 0.128 AC: 5311 AN: 41408

American (AMR) AF: 0.169 AC: 2581 AN: 15240

Ashkenazi Jewish (ASJ) AF: 0.231 AC: 803 AN: 3470

East Asian (EAS) AF: 0.200 AC: 1031 AN: 5148

South Asian (SAS) AF: 0.0965 AC: 464 AN: 4808

European-Finnish (FIN) AF: 0.342 AC: 3586 AN: 10474

Middle Eastern (MID) AF: 0.201 AC: 59 AN: 294

European-Non Finnish (NFE) AF: 0.302 AC: 20512 AN: 67934

Other (OTH) AF: 0.248 AC: 521 AN: 2102

Alfa AF: 0.268 Hom.: 11363

Bravo AF: 0.217

Asia WGS AF: 0.163 AC: 565 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	0.46
DANN	Benign	0.46
PhyloP100		0.20

Splicing

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

Other links and lift over

dbSNP: rs10512437; hg19: chr17-30022353;