rs2145047

Variant names:

• chr6-36695875-G-A
• rs2145047

Your query was ambiguous. Multiple possible variants found:

• chr6-36695875-G-A
• chr6-36695875-G-C
• chr6-36695875-G-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 0.936 in 152,278 control chromosomes in the GnomAD database, including 66,911 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 0.94 (66911 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.199
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.977 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: 0.936 AC: 142492 AN: 152160 Hom.: 66856 Cov.: 33

Gnomad AFR AF: 0.985

Gnomad AMI AF: 0.955

Gnomad AMR AF: 0.899

Gnomad ASJ AF: 0.967

Gnomad EAS AF: 0.996

Gnomad SAS AF: 0.942

Gnomad FIN AF: 0.879

Gnomad MID AF: 0.959

Gnomad NFE AF: 0.917

Gnomad OTH AF: 0.943

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

GnomAD4 genome AF: 0.936 AC: 142606 AN: 152278 Hom.: 66911 Cov.: 33 AF XY: 0.935 AC XY: 69620 AN XY: 74456

African (AFR) AF: 0.985 AC: 40952 AN: 41576

American (AMR) AF: 0.898 AC: 13741 AN: 15294

Ashkenazi Jewish (ASJ) AF: 0.967 AC: 3356 AN: 3472

East Asian (EAS) AF: 0.996 AC: 5170 AN: 5190

South Asian (SAS) AF: 0.941 AC: 4539 AN: 4822

European-Finnish (FIN) AF: 0.879 AC: 9298 AN: 10582

Middle Eastern (MID) AF: 0.959 AC: 282 AN: 294

European-Non Finnish (NFE) AF: 0.917 AC: 62398 AN: 68020

Other (OTH) AF: 0.945 AC: 1999 AN: 2116

Alfa AF: 0.933 Hom.: 45637

Bravo AF: 0.941

Asia WGS AF: 0.972 AC: 3369 AN: 3466

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.75
DANN	Benign	0.67
PhyloP100		-0.20

Splicing

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

Other links and lift over

dbSNP: rs2145047; hg19: chr6-36663652;