rs1247555

Variant names:

• chr6-160767986-A-C
• rs1247555

Your query was ambiguous. Multiple possible variants found:

• chr6-160767986-A-C
• chr6-160767986-A-G
• chr6-160767986-A-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 0.575 in 152,124 control chromosomes in the GnomAD database, including 25,749 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 0.58 (25749 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.42
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.958 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: 0.575 AC: 87383 AN: 152006 Hom.: 25697 Cov.: 33

Gnomad AFR AF: 0.567

Gnomad AMI AF: 0.565

Gnomad AMR AF: 0.671

Gnomad ASJ AF: 0.503

Gnomad EAS AF: 0.980

Gnomad SAS AF: 0.684

Gnomad FIN AF: 0.530

Gnomad MID AF: 0.598

Gnomad NFE AF: 0.530

Gnomad OTH AF: 0.594

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

GnomAD4 genome AF: 0.575 AC: 87486 AN: 152124 Hom.: 25749 Cov.: 33 AF XY: 0.582 AC XY: 43246 AN XY: 74350

African (AFR) AF: 0.567 AC: 23537 AN: 41488

American (AMR) AF: 0.672 AC: 10269 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.503 AC: 1746 AN: 3470

East Asian (EAS) AF: 0.980 AC: 5058 AN: 5160

South Asian (SAS) AF: 0.681 AC: 3284 AN: 4824

European-Finnish (FIN) AF: 0.530 AC: 5608 AN: 10584

Middle Eastern (MID) AF: 0.605 AC: 178 AN: 294

European-Non Finnish (NFE) AF: 0.530 AC: 36026 AN: 67996

Other (OTH) AF: 0.600 AC: 1265 AN: 2110

Alfa AF: 0.576 Hom.: 4440

Bravo AF: 0.587

Asia WGS AF: 0.823 AC: 2856 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.15
DANN	Benign	0.31
PhyloP100		-1.4

Splicing

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

Other links and lift over

dbSNP: rs1247555; hg19: chr6-161189018;