rs744751

Variant names:

• chr3-30694445-G-A
• rs744751

Your query was ambiguous. Multiple possible variants found:

• chr3-30694445-G-A
• chr3-30694445-G-C
• chr3-30694445-G-T

Variant summary

Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_Strong BP6_Moderate BA1

The variant allele was found at a frequency of 0.227 in 152,070 control chromosomes in the GnomAD database, including 4,773 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).

• Frequency: Genomes: 𝑓 0.23 (4773 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: -1.07

ACMG classification

Verdict is Benign. Variant got -14 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BP6: Variant 3-30694445-G-A is Benign according to our data. Variant chr3-30694445-G-A is described in ClinVar as [Benign]. Clinvar id is 1170531.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.312 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: 0.227 AC: 34497 AN: 151952 Hom.: 4777 Cov.: 32

Gnomad AFR AF: 0.0960

Gnomad AMI AF: 0.155

Gnomad AMR AF: 0.151

Gnomad ASJ AF: 0.169

Gnomad EAS AF: 0.0946

Gnomad SAS AF: 0.170

Gnomad FIN AF: 0.397

Gnomad MID AF: 0.218

Gnomad NFE AF: 0.316

Gnomad OTH AF: 0.215

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

GnomAD4 genome AF: 0.227 AC: 34486 AN: 152070 Hom.: 4773 Cov.: 32 AF XY: 0.228 AC XY: 16914 AN XY: 74308

Gnomad4 AFR AF: 0.0959

Gnomad4 AMR AF: 0.151

Gnomad4 ASJ AF: 0.169

Gnomad4 EAS AF: 0.0942

Gnomad4 SAS AF: 0.170

Gnomad4 FIN AF: 0.397

Gnomad4 NFE AF: 0.316

Gnomad4 OTH AF: 0.212

Alfa AF: 0.287 Hom.: 12526

Bravo AF: 0.203

Asia WGS AF: 0.143 AC: 498 AN: 3476

ClinVar

Significance: Benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

Submissions by phenotype

Familial thoracic aortic aneurysm and aortic dissection Benign:1

Jan 30, 2025

Labcorp Genetics (formerly Invitae), Labcorp

Significance: Benign

Review Status: criteria provided, single submitter

Collection Method: clinical testing

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Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.0080
DANN	Benign	0.41

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs744751; hg19: chr3-30735937;