rs25630

Variant names:

• chr6-14734110-C-CAG
• rs25630
• ENST00000629853.3:n.313+55879_313+55880insCT

Your query was ambiguous. Multiple possible variants found:

• chr6-14734110-C-CAG
• chr6-14734110-C-CAGA

Variant summary

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

The ENST00000689305.1(ENSG00000234261):​n.230+6889_230+6890insCT 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 0.37 (16355 hom., cov: 0)
• Consequence: ENSG00000234261 ENST00000689305.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.507
• Publications: 3 publications found

Genes affected

ENSG00000234261 (HGNC:):

ACMG classification

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

• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.808 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000689305.1. 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
	ENSG00000234261	ENST00000629853.3	TSL:5	n.313+55879_313+55880insCT		intron	N/A
	ENSG00000234261	ENST00000689305.1		n.230+6889_230+6890insCT		intron	N/A
	ENSG00000234261	ENST00000702363.1		n.187-2633_187-2632insCT		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.369 AC: 56005 AN: 151902 Hom.: 16311 Cov.: 0

Gnomad AFR AF: 0.815

Gnomad AMI AF: 0.182

Gnomad AMR AF: 0.319

Gnomad ASJ AF: 0.296

Gnomad EAS AF: 0.0856

Gnomad SAS AF: 0.233

Gnomad FIN AF: 0.0992

Gnomad MID AF: 0.364

Gnomad NFE AF: 0.189

Gnomad OTH AF: 0.346

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

GnomAD4 genome AF: 0.369 AC: 56103 AN: 152018 Hom.: 16355 Cov.: 0 AF XY: 0.361 AC XY: 26820 AN XY: 74340

African (AFR) AF: 0.815 AC: 33744 AN: 41408

American (AMR) AF: 0.319 AC: 4880 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.296 AC: 1027 AN: 3470

East Asian (EAS) AF: 0.0856 AC: 443 AN: 5176

South Asian (SAS) AF: 0.233 AC: 1124 AN: 4820

European-Finnish (FIN) AF: 0.0992 AC: 1051 AN: 10596

Middle Eastern (MID) AF: 0.354 AC: 104 AN: 294

European-Non Finnish (NFE) AF: 0.189 AC: 12845 AN: 67952

Other (OTH) AF: 0.341 AC: 719 AN: 2108

Alfa AF: 0.129 Hom.: 312

Bravo AF: 0.404

Asia WGS AF: 0.216 AC: 753 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.51

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: rs25630;

hg19: chr6-14734341;