14-79943135-G-T

Variant names:

• chr14-79943135-G-T
• rs10135446
• ENST00000554307.1:n.366+29167C>A

Variant summary

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

The ENST00000554307.1(ENSG00000258416):​n.366+29167C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.179 in 151,968 control chromosomes in the GnomAD database, including 2,512 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 0.18 (2512 hom., cov: 32)
• Consequence: ENSG00000258416 ENST00000554307.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.305
• Publications: 5 publications found

Genes affected

ENSG00000258416 (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 (AMR) allele frequency at 95% confidence interval = 0.222 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000554307.1. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

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

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ENSG00000258416	ENST00000554307.1	TSL:3	n.366+29167C>A		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.179 AC: 27130 AN: 151850 Hom.: 2508 Cov.: 32

Gnomad AFR AF: 0.146

Gnomad AMI AF: 0.191

Gnomad AMR AF: 0.228

Gnomad ASJ AF: 0.140

Gnomad EAS AF: 0.139

Gnomad SAS AF: 0.166

Gnomad FIN AF: 0.277

Gnomad MID AF: 0.155

Gnomad NFE AF: 0.179

Gnomad OTH AF: 0.159

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

GnomAD4 genome AF: 0.179 AC: 27157 AN: 151968 Hom.: 2512 Cov.: 32 AF XY: 0.183 AC XY: 13616 AN XY: 74248

African (AFR) AF: 0.146 AC: 6048 AN: 41484

American (AMR) AF: 0.228 AC: 3477 AN: 15254

Ashkenazi Jewish (ASJ) AF: 0.140 AC: 487 AN: 3468

East Asian (EAS) AF: 0.140 AC: 719 AN: 5154

South Asian (SAS) AF: 0.166 AC: 802 AN: 4824

European-Finnish (FIN) AF: 0.277 AC: 2913 AN: 10522

Middle Eastern (MID) AF: 0.156 AC: 46 AN: 294

European-Non Finnish (NFE) AF: 0.179 AC: 12150 AN: 67948

Other (OTH) AF: 0.162 AC: 341 AN: 2108

Alfa AF: 0.179 Hom.: 3629

Bravo AF: 0.176

Asia WGS AF: 0.157 AC: 544 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.84
CADD	Benign	1.7
DANN	Benign	0.52
PhyloP100		0.30

Splicing

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

Other links and lift over

dbSNP: rs10135446; hg19: chr14-80409478;