rs382903

Variant names:

• chr7-51965503-G-A
• rs382903

Your query was ambiguous. Multiple possible variants found:

• chr7-51965503-G-A
• chr7-51965503-G-C
• chr7-51965503-G-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

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 (63836 hom., cov: 20)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.969
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.982 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: 0.935 AC: 135596 AN: 145004 Hom.: 63816 Cov.: 20

Gnomad AFR AF: 0.804

Gnomad AMI AF: 0.915

Gnomad AMR AF: 0.955

Gnomad ASJ AF: 0.985

Gnomad EAS AF: 0.999

Gnomad SAS AF: 0.963

Gnomad FIN AF: 0.998

Gnomad MID AF: 0.924

Gnomad NFE AF: 0.989

Gnomad OTH AF: 0.941

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

GnomAD4 genome AF: 0.935 AC: 135642 AN: 145062 Hom.: 63836 Cov.: 20 AF XY: 0.936 AC XY: 65789 AN XY: 70268

African (AFR) AF: 0.804 AC: 31098 AN: 38656

American (AMR) AF: 0.955 AC: 13738 AN: 14380

Ashkenazi Jewish (ASJ) AF: 0.985 AC: 3397 AN: 3450

East Asian (EAS) AF: 0.999 AC: 4967 AN: 4974

South Asian (SAS) AF: 0.963 AC: 4360 AN: 4526

European-Finnish (FIN) AF: 0.998 AC: 8800 AN: 8818

Middle Eastern (MID) AF: 0.928 AC: 256 AN: 276

European-Non Finnish (NFE) AF: 0.989 AC: 66309 AN: 67070

Other (OTH) AF: 0.941 AC: 1890 AN: 2008

Alfa AF: 0.928 Hom.: 11156

Bravo AF: 0.925

Asia WGS AF: 0.970 AC: 3375 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.14
DANN	Benign	0.28
PhyloP100		-0.97

Splicing

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

Other links and lift over

dbSNP: rs382903; hg19: chr7-52033199;