9-108407724-TAAAC-TAAACAAAC

Variant names:

• chr9-108407724-T-TAAAC
• rs2307745
• ENST00000826308.1:n.97+9207_97+9208insGTTT

Variant summary

Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BA1

The ENST00000826308.1(ENSG00000307437):​n.97+9207_97+9208insGTTT variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.41 (13369 hom., cov: 0)
• Consequence: ENSG00000307437 ENST00000826308.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.29
• Publications: 2 publications found

Genes affected

ENSG00000307437 (HGNC:):

ACMG classification

Our verdict: Benign. The variant received -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.487 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000826308.1. 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
	ENSG00000307437	ENST00000826308.1		n.97+9207_97+9208insGTTT		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.410 AC: 61420 AN: 149828 Hom.: 13367 Cov.: 0

Gnomad AFR AF: 0.294

Gnomad AMI AF: 0.646

Gnomad AMR AF: 0.375

Gnomad ASJ AF: 0.527

Gnomad EAS AF: 0.102

Gnomad SAS AF: 0.374

Gnomad FIN AF: 0.480

Gnomad MID AF: 0.573

Gnomad NFE AF: 0.491

Gnomad OTH AF: 0.462

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

GnomAD4 genome AF: 0.410 AC: 61440 AN: 149942 Hom.: 13369 Cov.: 0 AF XY: 0.405 AC XY: 29687 AN XY: 73268

African (AFR) AF: 0.294 AC: 11979 AN: 40700

American (AMR) AF: 0.375 AC: 5561 AN: 14848

Ashkenazi Jewish (ASJ) AF: 0.527 AC: 1823 AN: 3458

East Asian (EAS) AF: 0.101 AC: 522 AN: 5154

South Asian (SAS) AF: 0.374 AC: 1759 AN: 4706

European-Finnish (FIN) AF: 0.480 AC: 5012 AN: 10442

Middle Eastern (MID) AF: 0.578 AC: 170 AN: 294

European-Non Finnish (NFE) AF: 0.491 AC: 33082 AN: 67360

Other (OTH) AF: 0.456 AC: 945 AN: 2072

Alfa AF: 0.419 Hom.: 1502

Bravo AF: 0.392

Asia WGS AF: 0.232 AC: 809 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		1.3

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: rs2307745;

hg19: chr9-111170004;