rs7944397

Variant names:

• chr11-34433762-A-G
• rs7944397
• ENST00000724590.1:n.206+645A>G

Your query was ambiguous. Multiple possible variants found:

• chr11-34433762-A-G
• chr11-34433762-A-T

Variant summary

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

The ENST00000724590.1(ENSG00000294594):​n.206+645A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.224 in 152,182 control chromosomes in the GnomAD database, including 5,103 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 0.22 (5103 hom., cov: 33)
• Consequence: ENSG00000294594 ENST00000724590.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.692
• Publications: 10 publications found

Genes affected

ENSG00000294594 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.74).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.423 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
LOC105376622	XR_931180.3	n.265+645A>G		intron_variant	Intron 2 of 2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
ENSG00000294594	ENST00000724590.1	n.206+645A>G		intron_variant	Intron 2 of 2

Frequencies

GnomAD3 genomes AF: 0.223 AC: 33951 AN: 152064 Hom.: 5080 Cov.: 33

Gnomad AFR AF: 0.428

Gnomad AMI AF: 0.0822

Gnomad AMR AF: 0.163

Gnomad ASJ AF: 0.214

Gnomad EAS AF: 0.293

Gnomad SAS AF: 0.0741

Gnomad FIN AF: 0.0939

Gnomad MID AF: 0.373

Gnomad NFE AF: 0.140

Gnomad OTH AF: 0.233

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

GnomAD4 genome AF: 0.224 AC: 34021 AN: 152182 Hom.: 5103 Cov.: 33 AF XY: 0.217 AC XY: 16179 AN XY: 74402

African (AFR) AF: 0.428 AC: 17757 AN: 41468

American (AMR) AF: 0.163 AC: 2486 AN: 15298

Ashkenazi Jewish (ASJ) AF: 0.214 AC: 741 AN: 3468

East Asian (EAS) AF: 0.293 AC: 1520 AN: 5184

South Asian (SAS) AF: 0.0743 AC: 359 AN: 4830

European-Finnish (FIN) AF: 0.0939 AC: 995 AN: 10600

Middle Eastern (MID) AF: 0.371 AC: 109 AN: 294

European-Non Finnish (NFE) AF: 0.139 AC: 9488 AN: 68018

Other (OTH) AF: 0.233 AC: 491 AN: 2110

Alfa AF: 0.179 Hom.: 6555

Bravo AF: 0.241

Asia WGS AF: 0.196 AC: 681 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.74
CADD	Benign	8.1
DANN	Benign	0.92
PhyloP100		0.69

Splicing

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

Other links and lift over

dbSNP: rs7944397; hg19: chr11-34455309;