rs768676

Variant names:

• chr10-44207233-T-A
• rs768676

Your query was ambiguous. Multiple possible variants found:

• chr10-44207233-T-A
• chr10-44207233-T-G

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 0.101 in 151,372 control chromosomes in the GnomAD database, including 1,463 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 0.10 (1463 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.910
• 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 = 0.247 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: 0.101 AC: 15329 AN: 151254 Hom.: 1458 Cov.: 33

Gnomad AFR AF: 0.251

Gnomad AMI AF: 0.116

Gnomad AMR AF: 0.0659

Gnomad ASJ AF: 0.0693

Gnomad EAS AF: 0.00177

Gnomad SAS AF: 0.0487

Gnomad FIN AF: 0.0131

Gnomad MID AF: 0.0696

Gnomad NFE AF: 0.0455

Gnomad OTH AF: 0.0922

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

GnomAD4 genome AF: 0.101 AC: 15355 AN: 151372 Hom.: 1463 Cov.: 33 AF XY: 0.0970 AC XY: 7171 AN XY: 73930

African (AFR) AF: 0.251 AC: 10326 AN: 41198

American (AMR) AF: 0.0658 AC: 999 AN: 15184

Ashkenazi Jewish (ASJ) AF: 0.0693 AC: 240 AN: 3462

East Asian (EAS) AF: 0.00178 AC: 9 AN: 5060

South Asian (SAS) AF: 0.0487 AC: 231 AN: 4742

European-Finnish (FIN) AF: 0.0131 AC: 138 AN: 10536

Middle Eastern (MID) AF: 0.0714 AC: 21 AN: 294

European-Non Finnish (NFE) AF: 0.0455 AC: 3092 AN: 67882

Other (OTH) AF: 0.0917 AC: 193 AN: 2104

Alfa AF: 0.0748 Hom.: 96

Bravo AF: 0.112

Asia WGS AF: 0.0370 AC: 127 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	4.5
DANN	Benign	0.77
PhyloP100		0.91

Splicing

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

Other links and lift over

dbSNP: rs768676; hg19: chr10-44702681;