rs10744835

Variant names:

• chr12-114916044-G-A
• rs10744835

Your query was ambiguous. Multiple possible variants found:

• chr12-114916044-G-A
• chr12-114916044-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 0.288 in 152,122 control chromosomes in the GnomAD database, including 6,555 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 0.29 (6555 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.152
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.33 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: 0.288 AC: 43745 AN: 152002 Hom.: 6554 Cov.: 32

Gnomad AFR AF: 0.306

Gnomad AMI AF: 0.206

Gnomad AMR AF: 0.243

Gnomad ASJ AF: 0.424

Gnomad EAS AF: 0.148

Gnomad SAS AF: 0.343

Gnomad FIN AF: 0.222

Gnomad MID AF: 0.462

Gnomad NFE AF: 0.297

Gnomad OTH AF: 0.304

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

GnomAD4 genome AF: 0.288 AC: 43769 AN: 152122 Hom.: 6555 Cov.: 32 AF XY: 0.283 AC XY: 21063 AN XY: 74376

African (AFR) AF: 0.306 AC: 12682 AN: 41502

American (AMR) AF: 0.242 AC: 3704 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.424 AC: 1472 AN: 3470

East Asian (EAS) AF: 0.148 AC: 765 AN: 5164

South Asian (SAS) AF: 0.343 AC: 1657 AN: 4824

European-Finnish (FIN) AF: 0.222 AC: 2349 AN: 10572

Middle Eastern (MID) AF: 0.449 AC: 132 AN: 294

European-Non Finnish (NFE) AF: 0.297 AC: 20170 AN: 67982

Other (OTH) AF: 0.307 AC: 650 AN: 2114

Alfa AF: 0.296 Hom.: 20158

Bravo AF: 0.289

Asia WGS AF: 0.240 AC: 840 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	3.3
DANN	Benign	0.72
PhyloP100		0.15

Splicing

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

Other links and lift over

dbSNP: rs10744835; hg19: chr12-115353849;