rs10944728

Variant names:

• chr6-94271489-G-C
• rs10944728

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 0.131 in 152,184 control chromosomes in the GnomAD database, including 1,656 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 0.13 (1656 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0430
• Publications: 0 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 (EAS) allele frequency at 95% confidence interval = 0.281 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: 0.130 AC: 19844 AN: 152064 Hom.: 1652 Cov.: 32

Gnomad AFR AF: 0.0318

Gnomad AMI AF: 0.107

Gnomad AMR AF: 0.124

Gnomad ASJ AF: 0.103

Gnomad EAS AF: 0.293

Gnomad SAS AF: 0.178

Gnomad FIN AF: 0.165

Gnomad MID AF: 0.0665

Gnomad NFE AF: 0.173

Gnomad OTH AF: 0.122

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

GnomAD4 genome AF: 0.131 AC: 19861 AN: 152184 Hom.: 1656 Cov.: 32 AF XY: 0.132 AC XY: 9798 AN XY: 74402

African (AFR) AF: 0.0317 AC: 1318 AN: 41560

American (AMR) AF: 0.125 AC: 1909 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.103 AC: 357 AN: 3468

East Asian (EAS) AF: 0.294 AC: 1514 AN: 5154

South Asian (SAS) AF: 0.178 AC: 859 AN: 4816

European-Finnish (FIN) AF: 0.165 AC: 1749 AN: 10602

Middle Eastern (MID) AF: 0.0646 AC: 19 AN: 294

European-Non Finnish (NFE) AF: 0.173 AC: 11778 AN: 67984

Other (OTH) AF: 0.124 AC: 261 AN: 2110

Alfa AF: 0.153 Hom.: 276

Bravo AF: 0.120

Asia WGS AF: 0.177 AC: 614 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	0.78
DANN	Benign	0.51
PhyloP100		-0.043

Splicing

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

Other links and lift over

dbSNP: rs10944728; hg19: chr6-94981207;