rs1455638

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).

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: 0.596 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 v4.3

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;