8-41311757-T-C

Variant names:

• chr8-41311757-T-C
• rs921142

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 0.316 in 151,952 control chromosomes in the GnomAD database, including 9,178 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 0.32 (9178 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.724
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.432 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: 0.317 AC: 48057 AN: 151834 Hom.: 9185 Cov.: 32

Gnomad AFR AF: 0.0939

Gnomad AMI AF: 0.322

Gnomad AMR AF: 0.389

Gnomad ASJ AF: 0.277

Gnomad EAS AF: 0.447

Gnomad SAS AF: 0.429

Gnomad FIN AF: 0.458

Gnomad MID AF: 0.256

Gnomad NFE AF: 0.399

Gnomad OTH AF: 0.308

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

GnomAD4 genome AF: 0.316 AC: 48058 AN: 151952 Hom.: 9178 Cov.: 32 AF XY: 0.325 AC XY: 24090 AN XY: 74226

African (AFR) AF: 0.0936 AC: 3886 AN: 41496

American (AMR) AF: 0.389 AC: 5939 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.277 AC: 960 AN: 3470

East Asian (EAS) AF: 0.447 AC: 2300 AN: 5148

South Asian (SAS) AF: 0.429 AC: 2056 AN: 4792

European-Finnish (FIN) AF: 0.458 AC: 4829 AN: 10546

Middle Eastern (MID) AF: 0.248 AC: 73 AN: 294

European-Non Finnish (NFE) AF: 0.399 AC: 27074 AN: 67924

Other (OTH) AF: 0.308 AC: 649 AN: 2108

Alfa AF: 0.355 Hom.: 1341

Bravo AF: 0.298

Asia WGS AF: 0.402 AC: 1396 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	3.9
DANN	Benign	0.27
PhyloP100		-0.72

Splicing

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

Other links and lift over

dbSNP: rs921142; hg19: chr8-41169276;