rs2310747

Variant names:

• chr8-77272862-G-A
• rs2310747

Your query was ambiguous. Multiple possible variants found:

• chr8-77272862-G-A
• chr8-77272862-G-C
• chr8-77272862-G-T

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 0.247 in 151,614 control chromosomes in the GnomAD database, including 4,963 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 0.25 (4963 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.107
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.95).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.351 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.247 AC: 37415 AN: 151496 Hom.: 4956 Cov.: 32

Gnomad AFR AF: 0.149

Gnomad AMI AF: 0.450

Gnomad AMR AF: 0.256

Gnomad ASJ AF: 0.269

Gnomad EAS AF: 0.215

Gnomad SAS AF: 0.366

Gnomad FIN AF: 0.223

Gnomad MID AF: 0.315

Gnomad NFE AF: 0.298

Gnomad OTH AF: 0.260

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

GnomAD4 genome AF: 0.247 AC: 37446 AN: 151614 Hom.: 4963 Cov.: 32 AF XY: 0.249 AC XY: 18421 AN XY: 74058

African (AFR) AF: 0.149 AC: 6171 AN: 41432

American (AMR) AF: 0.255 AC: 3877 AN: 15190

Ashkenazi Jewish (ASJ) AF: 0.269 AC: 932 AN: 3464

East Asian (EAS) AF: 0.215 AC: 1109 AN: 5148

South Asian (SAS) AF: 0.365 AC: 1756 AN: 4814

European-Finnish (FIN) AF: 0.223 AC: 2353 AN: 10566

Middle Eastern (MID) AF: 0.322 AC: 94 AN: 292

European-Non Finnish (NFE) AF: 0.298 AC: 20193 AN: 67700

Other (OTH) AF: 0.263 AC: 551 AN: 2096

Alfa AF: 0.239 Hom.: 1977

Bravo AF: 0.241

Asia WGS AF: 0.283 AC: 986 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.95
CADD	Benign	1.0
DANN	Benign	0.35
PhyloP100		-0.11

Splicing

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

Other links and lift over

dbSNP: rs2310747; hg19: chr8-78185098;