8-31616625-T-C

Variant names:

• chr8-31616625-T-C
• rs35753505

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 0.295 in 151,980 control chromosomes in the GnomAD database, including 7,906 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 0.30 (7906 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0920
• Publications: 65 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 = 0.541 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: 0.296 AC: 44878 AN: 151862 Hom.: 7897 Cov.: 32

Gnomad AFR AF: 0.105

Gnomad AMI AF: 0.380

Gnomad AMR AF: 0.292

Gnomad ASJ AF: 0.406

Gnomad EAS AF: 0.558

Gnomad SAS AF: 0.380

Gnomad FIN AF: 0.403

Gnomad MID AF: 0.366

Gnomad NFE AF: 0.362

Gnomad OTH AF: 0.315

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

GnomAD4 genome AF: 0.295 AC: 44896 AN: 151980 Hom.: 7906 Cov.: 32 AF XY: 0.300 AC XY: 22264 AN XY: 74270

African (AFR) AF: 0.105 AC: 4340 AN: 41512

American (AMR) AF: 0.292 AC: 4450 AN: 15246

Ashkenazi Jewish (ASJ) AF: 0.406 AC: 1408 AN: 3468

East Asian (EAS) AF: 0.558 AC: 2880 AN: 5158

South Asian (SAS) AF: 0.382 AC: 1842 AN: 4826

European-Finnish (FIN) AF: 0.403 AC: 4247 AN: 10534

Middle Eastern (MID) AF: 0.373 AC: 109 AN: 292

European-Non Finnish (NFE) AF: 0.362 AC: 24606 AN: 67920

Other (OTH) AF: 0.316 AC: 667 AN: 2112

Alfa AF: 0.338 Hom.: 22622

Bravo AF: 0.278

Asia WGS AF: 0.417 AC: 1446 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	10
DANN	Benign	0.80
PhyloP100		-0.092

Splicing

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

Other links and lift over

dbSNP: rs35753505; hg19: chr8-31474141;