rs4756344

Variant names:

• chr11-36743734-G-A
• rs4756344
• ENST00000817320.1:n.284+32927G>A

Variant summary

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

The ENST00000817320.1(ENSG00000306379):​n.284+32927G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.705 in 152,084 control chromosomes in the GnomAD database, including 38,354 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 0.70 (38354 hom., cov: 32)
• Consequence: ENSG00000306379 ENST00000817320.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.611
• Publications: 3 publications found

Genes affected

ENSG00000306379 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.84).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.745 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000817320.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000306379	ENST00000817320.1		n.284+32927G>A		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.705 AC: 107100 AN: 151966 Hom.: 38317 Cov.: 32

Gnomad AFR AF: 0.700

Gnomad AMI AF: 0.623

Gnomad AMR AF: 0.663

Gnomad ASJ AF: 0.727

Gnomad EAS AF: 0.293

Gnomad SAS AF: 0.602

Gnomad FIN AF: 0.738

Gnomad MID AF: 0.655

Gnomad NFE AF: 0.750

Gnomad OTH AF: 0.715

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

GnomAD4 genome AF: 0.705 AC: 107195 AN: 152084 Hom.: 38354 Cov.: 32 AF XY: 0.698 AC XY: 51863 AN XY: 74340

African (AFR) AF: 0.700 AC: 29041 AN: 41482

American (AMR) AF: 0.663 AC: 10132 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.727 AC: 2523 AN: 3472

East Asian (EAS) AF: 0.293 AC: 1503 AN: 5134

South Asian (SAS) AF: 0.604 AC: 2901 AN: 4804

European-Finnish (FIN) AF: 0.738 AC: 7821 AN: 10592

Middle Eastern (MID) AF: 0.653 AC: 192 AN: 294

European-Non Finnish (NFE) AF: 0.750 AC: 51017 AN: 68004

Other (OTH) AF: 0.710 AC: 1499 AN: 2110

Alfa AF: 0.733 Hom.: 25637

Bravo AF: 0.699

Asia WGS AF: 0.479 AC: 1666 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	0.89
DANN	Benign	0.37
PhyloP100		-0.61

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs4756344;

hg19: chr11-36765284;