6-27085363-T-C

Variant names:

• chr6-27085363-T-C
• rs6930508

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 0.515 in 152,066 control chromosomes in the GnomAD database, including 22,211 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 0.51 (22211 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.510

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.765 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: 0.515 AC: 78229 AN: 151948 Hom.: 22168 Cov.: 32

Gnomad AFR AF: 0.771

Gnomad AMI AF: 0.371

Gnomad AMR AF: 0.434

Gnomad ASJ AF: 0.324

Gnomad EAS AF: 0.309

Gnomad SAS AF: 0.392

Gnomad FIN AF: 0.453

Gnomad MID AF: 0.487

Gnomad NFE AF: 0.423

Gnomad OTH AF: 0.503

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

GnomAD4 genome AF: 0.515 AC: 78313 AN: 152066 Hom.: 22211 Cov.: 32 AF XY: 0.512 AC XY: 38038 AN XY: 74330

Gnomad4 AFR AF: 0.772

Gnomad4 AMR AF: 0.433

Gnomad4 ASJ AF: 0.324

Gnomad4 EAS AF: 0.309

Gnomad4 SAS AF: 0.391

Gnomad4 FIN AF: 0.453

Gnomad4 NFE AF: 0.423

Gnomad4 OTH AF: 0.499

Alfa AF: 0.456 Hom.: 4046

Bravo AF: 0.527

Asia WGS AF: 0.345 AC: 1194 AN: 3456

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.57
DANN	Benign	0.39

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs6930508; hg19: chr6-27053142;