rs1705748

Variant names:

• chr12-33980236-A-G
• rs1705748

Your query was ambiguous. Multiple possible variants found:

• chr12-33980236-A-G
• chr12-33980236-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 0.549 in 151,966 control chromosomes in the GnomAD database, including 23,484 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 0.55 (23484 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.615
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.589 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: 0.549 AC: 83327 AN: 151848 Hom.: 23462 Cov.: 31

Gnomad AFR AF: 0.506

Gnomad AMI AF: 0.600

Gnomad AMR AF: 0.566

Gnomad ASJ AF: 0.549

Gnomad EAS AF: 0.180

Gnomad SAS AF: 0.396

Gnomad FIN AF: 0.654

Gnomad MID AF: 0.548

Gnomad NFE AF: 0.593

Gnomad OTH AF: 0.532

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

GnomAD4 genome AF: 0.549 AC: 83393 AN: 151966 Hom.: 23484 Cov.: 31 AF XY: 0.547 AC XY: 40582 AN XY: 74250

African (AFR) AF: 0.506 AC: 20970 AN: 41444

American (AMR) AF: 0.566 AC: 8626 AN: 15250

Ashkenazi Jewish (ASJ) AF: 0.549 AC: 1904 AN: 3468

East Asian (EAS) AF: 0.179 AC: 926 AN: 5162

South Asian (SAS) AF: 0.399 AC: 1921 AN: 4820

European-Finnish (FIN) AF: 0.654 AC: 6906 AN: 10556

Middle Eastern (MID) AF: 0.555 AC: 162 AN: 292

European-Non Finnish (NFE) AF: 0.593 AC: 40322 AN: 67950

Other (OTH) AF: 0.525 AC: 1110 AN: 2114

Alfa AF: 0.568 Hom.: 3105

Bravo AF: 0.546

Asia WGS AF: 0.305 AC: 1061 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.81
DANN	Benign	0.73
PhyloP100		-0.61

Splicing

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

Other links and lift over

dbSNP: rs1705748; hg19: chr12-34133171;