chr8-2314931-T-G

Variant names:

• chr8-2314931-T-G
• rs1455638

Variant summary

Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BP4_Strong

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 0.60 (8136 hom., cov: 6)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.799
• Publications: 0 publications found

ACMG classification

Our verdict: Likely_benign. The variant received -4 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).

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: 0.596 AC: 26327 AN: 44164 Hom.: 8138 Cov.: 6

Gnomad AFR AF: 0.797

Gnomad AMI AF: 0.518

Gnomad AMR AF: 0.557

Gnomad ASJ AF: 0.589

Gnomad EAS AF: 0.581

Gnomad SAS AF: 0.493

Gnomad FIN AF: 0.661

Gnomad MID AF: 0.648

Gnomad NFE AF: 0.555

Gnomad OTH AF: 0.585

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

GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.596 AC: 26310 AN: 44124 Hom.: 8136 Cov.: 6 AF XY: 0.601 AC XY: 11722 AN XY: 19516

African (AFR) AF: 0.797 AC: 4522 AN: 5672

American (AMR) AF: 0.559 AC: 2466 AN: 4412

Ashkenazi Jewish (ASJ) AF: 0.589 AC: 776 AN: 1318

East Asian (EAS) AF: 0.582 AC: 1406 AN: 2416

South Asian (SAS) AF: 0.489 AC: 652 AN: 1332

European-Finnish (FIN) AF: 0.661 AC: 2482 AN: 3754

Middle Eastern (MID) AF: 0.623 AC: 96 AN: 154

European-Non Finnish (NFE) AF: 0.555 AC: 13418 AN: 24188

Other (OTH) AF: 0.580 AC: 347 AN: 598

Alfa AF: 0.651 Hom.: 2850

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	5.5
PhyloP100		-0.80

Splicing

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

Other links and lift over

dbSNP: rs1455638; hg19: chr8-2260986;