rs8011773

Variant names:

• chr14-97391395-C-T
• rs8011773
• ENST00000846957.1:n.235-6967G>A

Variant summary

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

The ENST00000846957.1(ENSG00000310069):​n.235-6967G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.23 in 152,084 control chromosomes in the GnomAD database, including 4,111 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 0.23 (4111 hom., cov: 32)
• Consequence: ENSG00000310069 ENST00000846957.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.34
• Publications: 6 publications found

Genes affected

ENSG00000310069 (HGNC:58972):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.298 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000846957.1. 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
	ENSG00000310069	ENST00000846957.1		n.235-6967G>A		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.230 AC: 34977 AN: 151964 Hom.: 4113 Cov.: 32

Gnomad AFR AF: 0.215

Gnomad AMI AF: 0.287

Gnomad AMR AF: 0.248

Gnomad ASJ AF: 0.332

Gnomad EAS AF: 0.225

Gnomad SAS AF: 0.310

Gnomad FIN AF: 0.170

Gnomad MID AF: 0.342

Gnomad NFE AF: 0.232

Gnomad OTH AF: 0.274

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

GnomAD4 genome AF: 0.230 AC: 35004 AN: 152084 Hom.: 4111 Cov.: 32 AF XY: 0.229 AC XY: 17054 AN XY: 74344

African (AFR) AF: 0.215 AC: 8905 AN: 41472

American (AMR) AF: 0.248 AC: 3791 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.332 AC: 1151 AN: 3466

East Asian (EAS) AF: 0.225 AC: 1163 AN: 5178

South Asian (SAS) AF: 0.311 AC: 1493 AN: 4802

European-Finnish (FIN) AF: 0.170 AC: 1799 AN: 10582

Middle Eastern (MID) AF: 0.340 AC: 100 AN: 294

European-Non Finnish (NFE) AF: 0.232 AC: 15769 AN: 67996

Other (OTH) AF: 0.271 AC: 571 AN: 2106

Alfa AF: 0.235 Hom.: 16264

Bravo AF: 0.235

Asia WGS AF: 0.249 AC: 862 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.057
DANN	Benign	0.37
PhyloP100		-1.3

Splicing

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

Other links and lift over

dbSNP: rs8011773; hg19: chr14-97857732;