rs6867755

Variant names:

• chr5-97696273-T-C
• rs6867755

Your query was ambiguous. Multiple possible variants found:

• chr5-97696273-T-C
• chr5-97696273-T-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.0491 in 152,186 control chromosomes in the GnomAD database, including 445 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 0.049 (445 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.683

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.66).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.132 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: 0.0489 AC: 7430 AN: 152068 Hom.: 440 Cov.: 32

Gnomad AFR AF: 0.135

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0371

Gnomad ASJ AF: 0.0104

Gnomad EAS AF: 0.0902

Gnomad SAS AF: 0.0174

Gnomad FIN AF: 0.0316

Gnomad MID AF: 0.0222

Gnomad NFE AF: 0.00390

Gnomad OTH AF: 0.0439

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

GnomAD4 genome AF: 0.0491 AC: 7465 AN: 152186 Hom.: 445 Cov.: 32 AF XY: 0.0496 AC XY: 3692 AN XY: 74404

Gnomad4 AFR AF: 0.135

Gnomad4 AMR AF: 0.0370

Gnomad4 ASJ AF: 0.0104

Gnomad4 EAS AF: 0.0900

Gnomad4 SAS AF: 0.0180

Gnomad4 FIN AF: 0.0316

Gnomad4 NFE AF: 0.00390

Gnomad4 OTH AF: 0.0458

Alfa AF: 0.0108 Hom.: 49

Bravo AF: 0.0546

Asia WGS AF: 0.0620 AC: 216 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.66
CADD	Benign	10
DANN	Benign	0.42

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6867755; hg19: chr5-97031977;