8-23833118-T-C

Variant names:

• chr8-23833118-T-C
• rs310319

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 0.562 in 151,974 control chromosomes in the GnomAD database, including 24,285 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 0.56 (24285 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.19
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.737 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: 0.562 AC: 85315 AN: 151858 Hom.: 24247 Cov.: 32

Gnomad AFR AF: 0.588

Gnomad AMI AF: 0.477

Gnomad AMR AF: 0.640

Gnomad ASJ AF: 0.532

Gnomad EAS AF: 0.678

Gnomad SAS AF: 0.757

Gnomad FIN AF: 0.509

Gnomad MID AF: 0.535

Gnomad NFE AF: 0.517

Gnomad OTH AF: 0.564

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

GnomAD4 genome AF: 0.562 AC: 85406 AN: 151974 Hom.: 24285 Cov.: 32 AF XY: 0.568 AC XY: 42169 AN XY: 74276

African (AFR) AF: 0.588 AC: 24373 AN: 41460

American (AMR) AF: 0.640 AC: 9770 AN: 15258

Ashkenazi Jewish (ASJ) AF: 0.532 AC: 1843 AN: 3462

East Asian (EAS) AF: 0.677 AC: 3497 AN: 5162

South Asian (SAS) AF: 0.758 AC: 3653 AN: 4820

European-Finnish (FIN) AF: 0.509 AC: 5364 AN: 10548

Middle Eastern (MID) AF: 0.524 AC: 154 AN: 294

European-Non Finnish (NFE) AF: 0.517 AC: 35126 AN: 67956

Other (OTH) AF: 0.567 AC: 1191 AN: 2102

Alfa AF: 0.538 Hom.: 68760

Bravo AF: 0.569

Asia WGS AF: 0.704 AC: 2448 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	0.71
DANN	Benign	0.20
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs310319; hg19: chr8-23690631;