rs10506959

Variant names:

• chr12-88861946-C-T
• rs10506959

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 0.197 in 151,912 control chromosomes in the GnomAD database, including 3,662 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 0.20 (3662 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.889
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.348 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: 0.197 AC: 29872 AN: 151794 Hom.: 3648 Cov.: 32

Gnomad AFR AF: 0.352

Gnomad AMI AF: 0.159

Gnomad AMR AF: 0.178

Gnomad ASJ AF: 0.139

Gnomad EAS AF: 0.132

Gnomad SAS AF: 0.129

Gnomad FIN AF: 0.0802

Gnomad MID AF: 0.174

Gnomad NFE AF: 0.139

Gnomad OTH AF: 0.171

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

GnomAD4 genome AF: 0.197 AC: 29927 AN: 151912 Hom.: 3662 Cov.: 32 AF XY: 0.191 AC XY: 14206 AN XY: 74268

African (AFR) AF: 0.353 AC: 14589 AN: 41364

American (AMR) AF: 0.177 AC: 2706 AN: 15246

Ashkenazi Jewish (ASJ) AF: 0.139 AC: 481 AN: 3466

East Asian (EAS) AF: 0.132 AC: 683 AN: 5160

South Asian (SAS) AF: 0.129 AC: 621 AN: 4824

European-Finnish (FIN) AF: 0.0802 AC: 848 AN: 10570

Middle Eastern (MID) AF: 0.177 AC: 52 AN: 294

European-Non Finnish (NFE) AF: 0.139 AC: 9437 AN: 67962

Other (OTH) AF: 0.173 AC: 365 AN: 2114

Alfa AF: 0.158 Hom.: 8711

Bravo AF: 0.211

Asia WGS AF: 0.175 AC: 609 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	0.61
DANN	Benign	0.74
PhyloP100		-0.89

Splicing

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

Other links and lift over

dbSNP: rs10506959; hg19: chr12-89255723;