10-42844597-C-T

Variant names:

• chr10-42844597-C-T
• rs2795500

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 0.866 in 152,160 control chromosomes in the GnomAD database, including 57,190 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 0.87 (57190 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0620
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.919 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: 0.866 AC: 131635 AN: 152042 Hom.: 57138 Cov.: 32

Gnomad AFR AF: 0.927

Gnomad AMI AF: 0.951

Gnomad AMR AF: 0.848

Gnomad ASJ AF: 0.870

Gnomad EAS AF: 0.859

Gnomad SAS AF: 0.827

Gnomad FIN AF: 0.863

Gnomad MID AF: 0.889

Gnomad NFE AF: 0.835

Gnomad OTH AF: 0.865

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

GnomAD4 genome AF: 0.866 AC: 131746 AN: 152160 Hom.: 57190 Cov.: 32 AF XY: 0.866 AC XY: 64416 AN XY: 74366

African (AFR) AF: 0.927 AC: 38507 AN: 41534

American (AMR) AF: 0.847 AC: 12949 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.870 AC: 3022 AN: 3472

East Asian (EAS) AF: 0.858 AC: 4442 AN: 5176

South Asian (SAS) AF: 0.827 AC: 3989 AN: 4822

European-Finnish (FIN) AF: 0.863 AC: 9116 AN: 10560

Middle Eastern (MID) AF: 0.888 AC: 261 AN: 294

European-Non Finnish (NFE) AF: 0.835 AC: 56764 AN: 68000

Other (OTH) AF: 0.867 AC: 1829 AN: 2110

Alfa AF: 0.855 Hom.: 7215

Bravo AF: 0.867

Asia WGS AF: 0.820 AC: 2853 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	6.4
DANN	Benign	0.79
PhyloP100		-0.062

Splicing

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

Other links and lift over

dbSNP: rs2795500; hg19: chr10-43340045;