rs10267337

Variant names:

• chr7-155976055-A-C
• rs10267337

Your query was ambiguous. Multiple possible variants found:

• chr7-155976055-A-C
• chr7-155976055-A-G
• chr7-155976055-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 0.905 in 152,164 control chromosomes in the GnomAD database, including 63,044 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 0.91 (63044 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.921
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• 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: 0.906 AC: 137704 AN: 152046 Hom.: 63025 Cov.: 32

Gnomad AFR AF: 0.758

Gnomad AMI AF: 0.895

Gnomad AMR AF: 0.948

Gnomad ASJ AF: 0.928

Gnomad EAS AF: 1.00

Gnomad SAS AF: 0.954

Gnomad FIN AF: 0.973

Gnomad MID AF: 0.889

Gnomad NFE AF: 0.964

Gnomad OTH AF: 0.907

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

GnomAD4 genome AF: 0.905 AC: 137765 AN: 152164 Hom.: 63044 Cov.: 32 AF XY: 0.908 AC XY: 67597 AN XY: 74412

African (AFR) AF: 0.757 AC: 31393 AN: 41462

American (AMR) AF: 0.948 AC: 14497 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.928 AC: 3220 AN: 3470

East Asian (EAS) AF: 1.00 AC: 5176 AN: 5176

South Asian (SAS) AF: 0.954 AC: 4598 AN: 4818

European-Finnish (FIN) AF: 0.973 AC: 10315 AN: 10606

Middle Eastern (MID) AF: 0.898 AC: 264 AN: 294

European-Non Finnish (NFE) AF: 0.964 AC: 65569 AN: 68022

Other (OTH) AF: 0.908 AC: 1917 AN: 2112

Alfa AF: 0.912 Hom.: 56673

Bravo AF: 0.896

Asia WGS AF: 0.947 AC: 3290 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.40
DANN	Benign	0.69
PhyloP100		-0.92

Splicing

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

Other links and lift over

dbSNP: rs10267337; hg19: chr7-155768749;