rs6467475

Variant names:

• chr7-133217043-G-A
• rs6467475

Your query was ambiguous. Multiple possible variants found:

• chr7-133217043-G-A
• chr7-133217043-G-C
• chr7-133217043-G-T

Variant summary

Our verdict is Benign. The variant received -10 ACMG points: 0P and 10B. BP4_Moderate BA1

The variant allele was found at a frequency of 0.487 in 152,102 control chromosomes in the GnomAD database, including 21,722 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 0.49 (21722 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 2.49
• Publications: 2 publications found

ACMG classification

Our verdict: Benign. The variant received -10 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.32).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.823 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: 0.487 AC: 73945 AN: 151982 Hom.: 21675 Cov.: 33

Gnomad AFR AF: 0.831

Gnomad AMI AF: 0.282

Gnomad AMR AF: 0.335

Gnomad ASJ AF: 0.371

Gnomad EAS AF: 0.581

Gnomad SAS AF: 0.499

Gnomad FIN AF: 0.306

Gnomad MID AF: 0.436

Gnomad NFE AF: 0.340

Gnomad OTH AF: 0.464

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

GnomAD4 genome AF: 0.487 AC: 74044 AN: 152102 Hom.: 21722 Cov.: 33 AF XY: 0.483 AC XY: 35913 AN XY: 74348

African (AFR) AF: 0.831 AC: 34509 AN: 41538

American (AMR) AF: 0.334 AC: 5102 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.371 AC: 1288 AN: 3470

East Asian (EAS) AF: 0.581 AC: 3006 AN: 5176

South Asian (SAS) AF: 0.498 AC: 2395 AN: 4810

European-Finnish (FIN) AF: 0.306 AC: 3234 AN: 10570

Middle Eastern (MID) AF: 0.432 AC: 127 AN: 294

European-Non Finnish (NFE) AF: 0.340 AC: 23132 AN: 67952

Other (OTH) AF: 0.470 AC: 994 AN: 2114

Alfa AF: 0.414 Hom.: 23033

Bravo AF: 0.500

Asia WGS AF: 0.547 AC: 1901 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.32
CADD	Benign	18
DANN	Benign	0.66
PhyloP100		2.5

Splicing

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

Other links and lift over

dbSNP: rs6467475; hg19: chr7-132901801;