chr6-14734110-C-CAG

Variant names:

• chr6-14734110-C-CAG
• rs25630
• ENST00000629853.2:n.313+55879_313+55880insCT

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1

The ENST00000629853.2(ENSG00000234261):​n.313+55879_313+55880insCT 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 ENST00000629853.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.507

Genes affected

ENSG00000234261 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.808 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
ENSG00000234261	ENST00000629853.2	n.313+55879_313+55880insCT		intron_variant	Intron 3 of 3	5
ENSG00000234261	ENST00000689305.1	n.230+6889_230+6890insCT		intron_variant	Intron 2 of 2
ENSG00000234261	ENST00000702363.1	n.187-2633_187-2632insCT		intron_variant	Intron 1 of 1

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

Gnomad4 AFR AF: 0.815

Gnomad4 AMR AF: 0.319

Gnomad4 ASJ AF: 0.296

Gnomad4 EAS AF: 0.0856

Gnomad4 SAS AF: 0.233

Gnomad4 FIN AF: 0.0992

Gnomad4 NFE AF: 0.189

Gnomad4 OTH AF: 0.341

Alfa AF: 0.117 Hom.: 257

Bravo AF: 0.404

Asia WGS AF: 0.216 AC: 753 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs25630; hg19: chr6-14734341;