rs4767234

Variant names:

• chr12-114200043-A-C
• rs4767234

Your query was ambiguous. Multiple possible variants found:

• chr12-114200043-A-C
• chr12-114200043-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 0.414 in 151,622 control chromosomes in the GnomAD database, including 13,604 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 0.41 (13604 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.347
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.458 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: 0.414 AC: 62762 AN: 151504 Hom.: 13588 Cov.: 31

Gnomad AFR AF: 0.464

Gnomad AMI AF: 0.540

Gnomad AMR AF: 0.461

Gnomad ASJ AF: 0.415

Gnomad EAS AF: 0.0911

Gnomad SAS AF: 0.394

Gnomad FIN AF: 0.363

Gnomad MID AF: 0.548

Gnomad NFE AF: 0.405

Gnomad OTH AF: 0.413

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

GnomAD4 genome AF: 0.414 AC: 62816 AN: 151622 Hom.: 13604 Cov.: 31 AF XY: 0.411 AC XY: 30444 AN XY: 74076

African (AFR) AF: 0.464 AC: 19178 AN: 41374

American (AMR) AF: 0.462 AC: 7024 AN: 15208

Ashkenazi Jewish (ASJ) AF: 0.415 AC: 1431 AN: 3448

East Asian (EAS) AF: 0.0909 AC: 467 AN: 5136

South Asian (SAS) AF: 0.393 AC: 1889 AN: 4804

European-Finnish (FIN) AF: 0.363 AC: 3813 AN: 10504

Middle Eastern (MID) AF: 0.534 AC: 156 AN: 292

European-Non Finnish (NFE) AF: 0.405 AC: 27505 AN: 67852

Other (OTH) AF: 0.412 AC: 865 AN: 2100

Alfa AF: 0.402 Hom.: 5070

Bravo AF: 0.422

Asia WGS AF: 0.281 AC: 977 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	3.0
DANN	Benign	0.58
PhyloP100		0.35

Splicing

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

Other links and lift over

dbSNP: rs4767234; hg19: chr12-114637848;