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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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

Gnomad4 AFR AF: 0.506

Gnomad4 AMR AF: 0.566

Gnomad4 ASJ AF: 0.549

Gnomad4 EAS AF: 0.179

Gnomad4 SAS AF: 0.399

Gnomad4 FIN AF: 0.654

Gnomad4 NFE AF: 0.593

Gnomad4 OTH AF: 0.525

Alfa AF: 0.570 Hom.: 3000

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1705748; hg19: chr12-34133171;