10-94937495-T-C

Variant names:

• chr10-94937495-T-C
• rs4918758

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 0.356 in 151,948 control chromosomes in the GnomAD database, including 9,765 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 0.36 (9765 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.213
• Publications: 44 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.462 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.356 AC: 54065 AN: 151830 Hom.: 9756 Cov.: 32

Gnomad AFR AF: 0.332

Gnomad AMI AF: 0.383

Gnomad AMR AF: 0.300

Gnomad ASJ AF: 0.368

Gnomad EAS AF: 0.397

Gnomad SAS AF: 0.477

Gnomad FIN AF: 0.388

Gnomad MID AF: 0.304

Gnomad NFE AF: 0.366

Gnomad OTH AF: 0.346

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

GnomAD4 genome AF: 0.356 AC: 54108 AN: 151948 Hom.: 9765 Cov.: 32 AF XY: 0.358 AC XY: 26602 AN XY: 74216

African (AFR) AF: 0.332 AC: 13756 AN: 41446

American (AMR) AF: 0.299 AC: 4569 AN: 15258

Ashkenazi Jewish (ASJ) AF: 0.368 AC: 1277 AN: 3466

East Asian (EAS) AF: 0.396 AC: 2046 AN: 5162

South Asian (SAS) AF: 0.478 AC: 2303 AN: 4814

European-Finnish (FIN) AF: 0.388 AC: 4083 AN: 10536

Middle Eastern (MID) AF: 0.299 AC: 88 AN: 294

European-Non Finnish (NFE) AF: 0.366 AC: 24897 AN: 67956

Other (OTH) AF: 0.352 AC: 740 AN: 2104

Alfa AF: 0.363 Hom.: 32746

Bravo AF: 0.345

Asia WGS AF: 0.447 AC: 1553 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.82
DANN	Benign	0.45
PhyloP100		-0.21

Splicing

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

Other links and lift over

dbSNP: rs4918758; hg19: chr10-96697252;